Variant #0000249919 (NC_000002.11:g.29543736A>G, ALK(NM_004304.4):c.1427T>C)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.29543736A>G
DNA change (hg38) g.29320870A>G
Published as ALK(NM_004304.3):c.1427T>C (p.V476A)
ISCN -
DB-ID ALK_000053 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.02858 View details
Owner VKGL-NL_VUmc
Database submission license No license selected
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALK NM_004304.4 -/. - c.1427T>C r.(?) p.(Val476Ala)