Variant #0001039943 (NC_000014.8:g.31549825G>A, NM_014574.3:c.-54434C>T (STRN3))

Chromosome 14
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.31549825G>A
DNA change (hg38) -
Published as AP4S1(NM_001254727.2):c.341G>A (p.(Trp114*))
ISCN -
DB-ID AP4S1_000021
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) 2.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2025-05-05 21:14:00 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AP4S1 NM_001128126.2 ?/. - c.306+35G>A r.(=) p.(=)
STRN3 NM_014574.3 ?/. - c.-54434C>T r.(?) p.(=)


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