Variant #0000979232 (NC_000010.10:g.90701595A>G, NM_000043.4:c.-49039A>G (FAS))

Chromosome 10
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.90701595A>G
DNA change (hg38) -
Published as ACTA2(NM_001141945.2):c.401T>C (p.M134T)
ISCN -
DB-ID FAS_000097
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) 6.0E-5 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2024-04-19 20:27:30 +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     
FAS NM_000043.4 ?/. - c.-49039A>G r.(?) p.(=)
ACTA2 NM_001613.2 ?/. - c.401T>C r.(?) p.(Met134Thr)
STAMBPL1 NM_020799.3 ?/. - c.*18614A>G r.(=) p.(=)


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