TMEM120A
Basic information
Region (hg38): 7:75986831-75994656
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 TMEM120A 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 | 1 | |||||
missense | 29 | 29 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 3 | |||||
Total | 0 | 0 | 32 | 1 | 0 |
Variants in TMEM120A
This is a list of pathogenic ClinVar variants found in the TMEM120A region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
7-75986853-G-A | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Uncertain significance (Jan 12, 2018) | ||
7-75986859-G-A | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Uncertain significance (Jan 13, 2018) | ||
7-75986867-T-G | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | Uncertain significance (Jan 13, 2018) | ||
7-75987189-C-T | not specified | Uncertain significance (Aug 16, 2021) | ||
7-75987194-C-T | not specified | Uncertain significance (Jun 17, 2024) | ||
7-75987197-T-C | not specified | Uncertain significance (Mar 29, 2024) | ||
7-75987209-T-A | not specified | Uncertain significance (May 17, 2023) | ||
7-75987221-A-T | not specified | Uncertain significance (Mar 02, 2023) | ||
7-75987273-C-T | not specified | Uncertain significance (Aug 01, 2022) | ||
7-75987277-C-T | not specified | Uncertain significance (Apr 24, 2023) | ||
7-75987282-G-T | not specified | Uncertain significance (Dec 09, 2023) | ||
7-75987408-C-T | not specified | Likely benign (Nov 14, 2023) | ||
7-75987579-G-A | not specified | Uncertain significance (Dec 06, 2023) | ||
7-75987585-T-A | not specified | Uncertain significance (May 31, 2024) | ||
7-75987756-C-T | not specified | Uncertain significance (Oct 22, 2021) | ||
7-75987775-C-T | not specified | Uncertain significance (Jul 20, 2021) | ||
7-75987971-T-C | not specified | Uncertain significance (May 17, 2023) | ||
7-75987977-C-T | not specified | Uncertain significance (May 27, 2022) | ||
7-75988086-G-A | not specified | Uncertain significance (Apr 05, 2023) | ||
7-75988268-T-G | not specified | Uncertain significance (Oct 03, 2023) | ||
7-75988282-C-T | not specified | Uncertain significance (Apr 24, 2024) | ||
7-75988440-G-A | not specified | Uncertain significance (Dec 02, 2021) | ||
7-75988500-C-T | not specified | Uncertain significance (Mar 29, 2022) | ||
7-75988501-G-T | not specified | Uncertain significance (Nov 14, 2023) | ||
7-75989186-G-A | not specified | Uncertain significance (Nov 08, 2021) |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Necessary for efficient adipogenesis (PubMed:26024229). {ECO:0000269|PubMed:26024229}.;
Recessive Scores
- pRec
- 0.109
Haploinsufficiency Scores
- pHI
- 0.180
- hipred
- hipred_score
- ghis
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.318
Mouse Genome Informatics
- Gene name
- Tmem120a
- Phenotype
Gene ontology
- Biological process
- fat cell differentiation;protein homooligomerization;protein heterooligomerization
- Cellular component
- cellular_component;nuclear inner membrane;integral component of membrane
- Molecular function
- molecular_function