Variant #0000650567 (NC_000002.11:g.29445273G>A, ALK(NM_004304.4):c.3452C>T)

Individual ID 00292710
Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.29445273G>A
DNA change (hg38) g.29222407G>A
Published as -
ISCN -
DB-ID ALK_000087
Variant remarks risk factor; 80 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs113994091
Origin Germline
Segregation -
Frequency 80/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALK NM_004304.4 +/. - c.3452C>T r.(?) p.(Thr1151Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000293878 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq