Variant #0000800244 (NC_000002.11:g.191859935C>T, NM_007315.3:c.796G>A (STAT1))

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.191859935C>T
DNA change (hg38) -
Published as STAT1(NM_007315.3):c.796G>A (p.V266I, p.(Val266Ile)), STAT1(NM_007315.4):c.796G>A (p.V266I)
ISCN -
DB-ID STAT1_000054 See all 5 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) 0.00238 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2021-09-17 14:40:49 +02:00 (CEST)
Date last edited 2024-08-28 13:07:21 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STAT1 NM_007315.3 -?/. - c.796G>A r.(?) p.(Val266Ile)


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