Variant #0000262244 (NC_000002.11:g.29445458G>T, ALK(NM_004304.4):c.3375C>A)

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.29445458G>T
DNA change (hg38) g.29222592G>T
Published as ALK(NM_004304.3):c.3375C>A (p.G1125=)
ISCN -
DB-ID ALK_000023 See all 2 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) 0.33633 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALK NM_004304.4 -/. - c.3375C>A r.(?) p.(Gly1125=)