Variant #0000676620 (NC_000002.11:g.29462632C>T, ALK(NM_004304.4):c.2269G>A)

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.29462632C>T
DNA change (hg38) -
Published as ALK(NM_004304.3):c.2269G>A (p.V757M)
ISCN -
DB-ID ALK_000092
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) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALK NM_004304.4 ?/. - c.2269G>A r.(?) p.(Val757Met)