KRT19
Basic information
Region (hg38): 17:41523616-41528308
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT19 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 2 | |||||
missense | 25 | 26 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 25 | 1 | 2 |
Variants in KRT19
This is a list of pathogenic ClinVar variants found in the KRT19 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-41523759-G-T | not specified | Uncertain significance (Jul 26, 2021) | ||
17-41523832-G-A | not specified | Uncertain significance (Sep 14, 2021) | ||
17-41523834-G-A | not specified | Uncertain significance (Oct 27, 2023) | ||
17-41523874-G-A | not specified | Uncertain significance (Feb 28, 2024) | ||
17-41523888-C-T | not specified | Uncertain significance (Jan 10, 2023) | ||
17-41523916-C-T | not specified | Likely benign (Dec 15, 2023) | ||
17-41523939-G-T | not specified | Uncertain significance (Dec 02, 2021) | ||
17-41524145-T-C | not specified | Uncertain significance (Feb 15, 2023) | ||
17-41524190-G-A | not specified | Uncertain significance (Apr 04, 2023) | ||
17-41524219-A-G | not specified | Uncertain significance (Jun 26, 2023) | ||
17-41524410-C-T | not specified | Uncertain significance (Feb 02, 2024) | ||
17-41524467-A-G | not specified | Uncertain significance (Feb 11, 2022) | ||
17-41524516-C-T | not provided (-) | |||
17-41524943-C-T | Hereditary breast ovarian cancer syndrome | Uncertain significance (Aug 01, 2020) | ||
17-41524951-G-A | not provided (-) | |||
17-41524968-C-T | not specified | Uncertain significance (Dec 12, 2023) | ||
17-41525218-C-G | not specified | Uncertain significance (Mar 06, 2023) | ||
17-41525219-G-A | not specified | Uncertain significance (Oct 22, 2021) | ||
17-41525223-A-G | not provided (-) | |||
17-41525229-G-A | Benign (May 31, 2018) | |||
17-41527862-T-G | not specified | Uncertain significance (Oct 20, 2021) | ||
17-41527917-T-G | not specified | Uncertain significance (Nov 17, 2022) | ||
17-41528017-C-A | Benign (May 31, 2018) | |||
17-41528027-C-A | not specified | Uncertain significance (Feb 21, 2024) | ||
17-41528028-C-A | not specified | Uncertain significance (Feb 21, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
KRT19 | protein_coding | protein_coding | ENST00000361566 | 6 | 4692 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00434 | 0.989 | 125719 | 0 | 29 | 125748 | 0.000115 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.227 | 247 | 257 | 0.960 | 0.0000154 | 2561 |
Missense in Polyphen | 104 | 109.98 | 0.94562 | 1141 | ||
Synonymous | -0.613 | 127 | 119 | 1.07 | 0.00000740 | 847 |
Loss of Function | 2.39 | 7 | 17.9 | 0.391 | 0.00000102 | 173 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.000200 | 0.000198 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.000123 | 0.000123 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.000359 | 0.000359 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in the organization of myofibers. Together with KRT8, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle. {ECO:0000269|PubMed:16000376}.;
- Pathway
- Estrogen signaling pathway - Homo sapiens (human);Keratinization;Developmental Biology;Signaling mediated by p38-alpha and p38-beta
(Consensus)
Recessive Scores
- pRec
- 0.629
Intolerance Scores
- loftool
- 0.161
- rvis_EVS
- -0.16
- rvis_percentile_EVS
- 42.16
Haploinsufficiency Scores
- pHI
- 0.106
- hipred
- N
- hipred_score
- 0.358
- ghis
- 0.457
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.945
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Krt19
- Phenotype
- endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; craniofacial phenotype; cellular phenotype; immune system phenotype; respiratory system phenotype; liver/biliary system phenotype; embryo phenotype; neoplasm; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; skeleton phenotype;
Gene ontology
- Biological process
- Notch signaling pathway;viral process;keratinization;response to estrogen;sarcomere organization;cell differentiation involved in embryonic placenta development;cornification
- Cellular component
- cytosol;intermediate filament;plasma membrane;dystrophin-associated glycoprotein complex;apicolateral plasma membrane;Z disc;sarcolemma;costamere;extracellular exosome;cell periphery;terminal web
- Molecular function
- structural constituent of cytoskeleton;protein binding;structural constituent of muscle;protein-containing complex binding