Variant #0000991407 (NC_000001.10:g.74670359C>T, NM_015978.2:c.-30777C>T (TNNI3K))

Chromosome 1
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.74670359C>T
DNA change (hg38) -
Published as FPGT(NM_003838.4):c.667C>T (p.(Pro223Ser))
ISCN -
DB-ID FPGT-TNNI3K_000172
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) 0.00123 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 2024-08-28 13:07:21 +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     
FPGT-TNNI3K NM_001112808.2 -?/. - c.382+3265C>T r.(=) p.(=)
TNNI3K NM_015978.2 -?/. - c.-30777C>T r.(?) p.(=)


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