Variant #0000609232 (NC_000004.11:g.55570018_55570026del, KIT(NM_000222.2):c.885_893del)

Chromosome 4
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.55570018_55570026del
DNA change (hg38) g.54703852_54703860del
Published as KIT(NM_000222.2):c.884_892del (p.(Phe296_Ser298del))
ISCN -
DB-ID KIT_000028
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KIT NM_000222.2 ?/. - c.885_893del r.(?) p.(Phe296_Ser298del)