View genomic variant #0000006906

Individual ID 00001038
Chromosome 2
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.29225518C>T
Reference -
DB-ID ALK_000001
Average frequency (large NGS studies) Variant not found in online data sets
Owner Marina Antelo-Hospital Udaondo




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     
ALK NM_004304.4 ?/? 19 c.3115G>A p.(Val1039Met) Hetero MSH6 r.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001243 DNA CNV;SEQ-NG Invitae-Genesia (Progenitest) Invitae Multi-Cancer Panel (83 genes) 24-may-2019 Multigenetic panel - 2 Marina Antelo-Hospital Udaondo