Variant #0000007191 (NC_000002.12:g.47799632_47799634del, MSH6(NM_000179.2):c.1649_1651del)

Individual ID 00001280
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.47799632_47799634del
Reference -
DB-ID MSH6_000045 See all 2 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     
MSH6 NM_000179.2 ?/? 4 c.1649_1651del r.(?) p.(Ser550_Gly551delinsCys) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001519 DNA CNV;SEQ-NG IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53) 28-mar-2018 Multigenetic panel - 28 Silvina Sisterna-Hospital de Comunidad