Variant #0000977841 (NC_000007.13:g.73935594C>T, NM_016328.2:c.973C>T (GTF2IRD1))

Chromosome 7
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.73935594C>T
DNA change (hg38) -
Published as GTF2IRD1(NM_005685.4):c.973C>T (p.(Arg325Cys))
ISCN -
DB-ID GTF2IRD1_000005
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-04-19 20:27:30 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GTF2IRD1 NM_016328.2 ?/. - c.973C>T r.(?) p.(Arg325Cys)


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