DHRS7C

dehydrogenase/reductase 7C, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 17:9771434-9791592

Links

ENSG00000184544NCBI:201140OMIM:616161HGNC:32423Uniprot:A6NNS2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DHRS7C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHRS7C 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
0
missense
29
clinvar
29
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
2
clinvar
2
Total 0 0 29 0 2

Variants in DHRS7C

This is a list of pathogenic ClinVar variants found in the DHRS7C region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
17-9771526-C-G not specified Uncertain significance (Dec 17, 2023)3082129
17-9771553-C-G not specified Uncertain significance (Sep 20, 2024)3501509
17-9771574-A-G not specified Uncertain significance (May 26, 2024)3271826
17-9771634-T-C not specified Uncertain significance (Oct 05, 2023)3082128
17-9771670-C-T not specified Uncertain significance (Apr 22, 2024)3271824
17-9772802-G-A not specified Uncertain significance (Jan 06, 2023)2469725
17-9772820-C-T not specified Uncertain significance (Mar 07, 2025)2483850
17-9772857-C-T not specified Uncertain significance (Nov 20, 2024)2377719
17-9772866-C-G not specified Uncertain significance (Oct 07, 2024)2287503
17-9772877-C-A not specified Uncertain significance (Oct 07, 2024)3501510
17-9772881-G-A not specified Uncertain significance (Mar 14, 2023)2469378
17-9772892-A-C not specified Uncertain significance (Dec 16, 2023)3082127
17-9772896-C-T not specified Uncertain significance (Jun 09, 2022)2323656
17-9777222-C-T not specified Uncertain significance (Sep 20, 2023)3082126
17-9777271-T-C not specified Uncertain significance (Dec 21, 2023)3082125
17-9777273-T-C not specified Uncertain significance (Jan 24, 2024)3082124
17-9779858-C-T not specified Uncertain significance (Nov 08, 2022)2323012
17-9779866-A-T not specified Uncertain significance (Jun 05, 2024)3271828
17-9779876-C-G not specified Uncertain significance (Oct 11, 2024)3501511
17-9779895-A-C not specified Uncertain significance (Oct 29, 2021)2258133
17-9779899-G-T not specified Uncertain significance (Apr 26, 2023)2541309
17-9779986-A-G not specified Uncertain significance (May 17, 2023)2548011
17-9780032-A-G not specified Uncertain significance (Jun 10, 2022)2295038
17-9780047-A-G Benign (Mar 05, 2018)735107
17-9781485-G-C not specified Uncertain significance (Aug 10, 2024)3501508

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DHRS7Cprotein_codingprotein_codingENST00000330255 619864
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.27e-80.18412488001871250670.000748
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3511631760.9250.00001022011
Missense in Polyphen6468.5560.93355745
Synonymous-0.05937877.31.010.00000505624
Loss of Function0.2331212.90.9306.32e-7156

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0006290.000622
Ashkenazi Jewish0.000.00
East Asian0.0007270.000723
Finnish0.004690.00465
European (Non-Finnish)0.0004340.000433
Middle Eastern0.0007270.000723
South Asian0.00009810.0000980
Other0.0006580.000656

dbNSFP

Source: dbNSFP

Function
FUNCTION: Putative oxidoreductase. {ECO:0000305}.;

Recessive Scores

pRec
0.112

Intolerance Scores

loftool
0.548
rvis_EVS
0.2
rvis_percentile_EVS
67.19

Haploinsufficiency Scores

pHI
0.125
hipred
N
hipred_score
0.238
ghis
0.479

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.351

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dhrs7c
Phenotype

Gene ontology

Biological process
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;oxidation-reduction process
Cellular component
extracellular region;longitudinal sarcoplasmic reticulum;sarcoplasmic reticulum membrane
Molecular function
retinol dehydrogenase activity