Variant #0000417310 (NC_000002.11:g.48010445G>T, MSH6(NM_000179.2):c.73G>T)

Individual ID 00201307
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.48010445G>T
DNA change (hg38) g.47783306G>T
Published as 73G>T
ISCN -
DB-ID MSH6_000615 See all 17 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00013 View details
Owner Thomas Hansen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 ?/. 1 c.73G>T r.(?) p.(Ala25Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202329 DNA SEQ - - MLH1, MSH2, MSH6 1 Thomas Hansen