Variant #0000522669 (NC_000004.11:g.55599268C>T, KIT(NM_000222.2):c.2394C>T)

Chromosome 4
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.55599268C>T
DNA change (hg38) g.54733102C>T
Published as KIT(NM_000222.2):c.2394C>T (p.(Ile798=), p.I798=)
ISCN -
DB-ID KIT_000025 See all 3 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) 0.02061 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KIT NM_000222.2 -?/. - c.2394C>T r.(?) p.(Ile798=)