Variant #0000928662 (NC_000002.11:g.8946448C>G, NM_020738.2:c.556G>C (KIDINS220))

Chromosome 2
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.8946448C>G
DNA change (hg38) -
Published as KIDINS220(NM_020738.4):c.556G>C (p.V186L)
ISCN -
DB-ID KIDINS220_000050
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_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2023-07-07 10:10:56 +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     
KIDINS220 NM_020738.2 ?/. - c.556G>C r.(?) p.(Val186Leu)


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