Variant #0000009681 (NC_000002.12:g.29296948G>T, ALK(NM_004304.4):c.1757C>A)

Individual ID 00002555
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.29296948G>T
Reference -
DB-ID ALK_000016
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Cecilia Montes-IMGO
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
ALK NM_004304.4 ?/? 9 c.1757C>A (p.Ala586Asp) Hetero no r.(1757c>a) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002788 DNA SEQ-NG INVITAE Invitae Multi-Cancer Panel (84 genes) 01-04-22 Multigenetic panel - 3 Cecilia Montes-IMGO