Variant #0000260060 (NC_000002.11:g.29497967G>A, ALK(NM_004304.4):c.2039C>T)

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.29497967G>A
DNA change (hg38) g.29275101G>A
Published as ALK(NM_004304.3):c.2039C>T (p.T680I)
ISCN -
DB-ID ALK_000044 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01643 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.2039C>T r.(?) p.(Thr680Ile)