Genomic variant #0000415567

Individual ID 00187073
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 -
ISCN -
DB-ID MSH6_000615 See all 17 reported entries
Variant remarks -
Reference PubMed: Nilbert 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00016 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.73G>T r.(?) p.(Ala25Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188042 DNA ? - - MSH6 1 Michael Woods