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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SRD5A3 NM_024592.4 ?/. - c.951_955del r.(?) p.(Phe318SerfsTer2)
SRD5A3-AS1 NR_037969.1 ?/. - n.364-2922_364-2918del r.(?) -


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