Variant #0000435006 (NC_000002.11:g.29443697A>C, ALK(NM_004304.4):c.3520T>G)

Individual ID 00204579
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.29443697A>C
DNA change (hg38) g.29220831A>C
Published as -
ISCN -
DB-ID ALK_000069
Variant remarks -
Reference Journal: de Pontual et al 2011
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner -
Database submission license No license selected
Created by Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALK NM_004304.4 +/? 23 c.3520T>G r.(?) p.(Phe1147Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000205608 DNA SEQ - - ALK 1 -