Variant #0000515674 (NC_000002.11:g.30142865C>G, ALK(NM_004304.4):c.661G>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.30142865C>G
DNA change (hg38) g.29919999C>G
Published as ALK(NM_004304.3):c.661G>C (p.G221R)
ISCN -
DB-ID ALK_000083
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) 0.00016 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.661G>C r.(?) p.(Gly221Arg)