Genomic variant #0000076769

Individual ID 00047863
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48026906del
DNA change (hg38) g.47799767del
Published as 1784delT
ISCN -
DB-ID MSH6_000122 See all 21 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner James Whitworth




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MSH6 NM_000179.2 +/. 4 c.1784del pathogenic r.(?) p.(Leu595Tyrfs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047989 DNA SEQ - - MSH6, MUTYH 3 James Whitworth