Variant #0000415565 (NC_000002.11:g.48010431C>T, MSH6(NM_000179.2):c.59C>T)

Individual ID 00187071
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.48010431C>T
DNA change (hg38) g.47783292C>T
Published as -
ISCN -
DB-ID MSH6_000591 See all 12 reported entries
Variant remarks -
Reference PubMed: Nilbert 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner Michael Woods
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 ?/. 1 c.59C>T r.(?) p.(Ala20Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188040 DNA ? - - MSH6 1 Michael Woods