Genomic variant #0000021753

Individual ID 00003286
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48033794_48033798dup
DNA change (hg38) g.47806655_47806659dup
Published as -
ISCN -
DB-ID MSH6_001152 See all 3 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 Christopher Watson




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MSH6 NM_000179.2 ?/. 9i c.4001+4_4001+8dup VUS r.(spl?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000003205 DNA SEQ-NG-I - - MSH6 1 Christopher Watson