Variant #0000677292 (NC_000004.11:g.56236252_56236256del, NM_024592.4:c.951_955del (SRD5A3))
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.56236252_56236256del |
DNA change (hg38) |
- |
Published as |
SRD5A3(NM_024592.4):c.951_955delGTTTT (p.F318Sfs*2), SRD5A3(NM_024592.5):c.951_955del (p.(Phe318Ser)), SRD5A3(NM_024592.5):c.951_955delGTTTT (p.F3...) |
ISCN |
- |
DB-ID |
SRD5A3_000004 See all 4 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
VKGL-NL_Groningen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Groningen |
Date created |
2020-08-06 14:59:34 +02:00 (CEST) |
Date last edited |
2025-05-05 21:14:00 +02:00 (CEST) |

Variant on transcripts
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