Variant #0000415555 (NC_000002.11:g.48007276_48020272del, MSH6(NM_000179.2):c.-3097_457+2010del)

Individual ID 00187058
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.48007276_48020272del
DNA change (hg38) g.47780137_47793133del
Published as -
ISCN -
DB-ID MSH6_000003 See all 3 reported entries
Variant remarks 13.0 Kb deletion promoter to exon 2
Reference PubMed: Plaschke 2004
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_2i c.-3097_457+2010del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188027 DNA ? - - MSH6 1 Michael Woods