Variant #0000848837 (NC_000001.10:g.74818951G>A, NM_015978.2:c.934G>A (TNNI3K))

Chromosome 1
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.74818951G>A
DNA change (hg38) -
Published as TNNI3K(NM_015978.3):c.934G>A (p.A312T)
ISCN -
DB-ID FPGT-TNNI3K_000110
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) 0.00012 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2022-05-09 15:40:45 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FPGT-TNNI3K NM_001112808.2 ?/. - c.1276G>A r.(?) p.(Ala426Thr)
TNNI3K NM_015978.2 ?/. - c.934G>A r.(?) p.(Ala312Thr)


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