Variant #0000416420 (NC_000002.11:g.48009925G>A, MSH6(NM_000179.2):c.-448G>A)

Individual ID 00187889
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.48009925G>A
DNA change (hg38) g.47782786G>A
Published as -
ISCN -
DB-ID MSH6_000591 See all 12 reported entries
Variant remarks Functional studies indicate Inactivation of two splice1 sites; Authors describe this as a polymorphism
Reference PubMed: Gazzoli 2003
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 Michael Woods
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 ?/. 1 c.-448G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188858 DNA ? - - MSH6 1 Michael Woods