Variant #0000249359 (NC_000002.11:g.29450501A>G, ALK(NM_004304.4):c.2853T>C)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.29450501A>G
DNA change (hg38) g.29227635A>G
Published as ALK(NM_004304.3):c.2853T>C (p.D951=)
ISCN -
DB-ID ALK_000066
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 View details
Owner VKGL-NL_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALK NM_004304.4 -?/. - c.2853T>C r.(?) p.(Asp951=)