Variant #0000458760 (NC_000002.11:g.48010443C>A, MSH6(NM_000179.2):c.71C>A)

Individual ID 00225431
Chromosome 2
Allele Unknown
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.48010443C>A
DNA change (hg38) g.47783304C>A
Published as -
ISCN -
DB-ID MSH6_001168
Variant remarks MSH6 with c.71C>A was found in patient with endometrioid endometrial cancer related Lynch syndrome.
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Caixia Ren
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 +/. 1 c.71C>A r.(?) p.(Ser24*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226510 DNA SEQ-NG - - - 1 Caixia Ren