Variant #0000420768 (NC_000002.11:g.(?_47630206)_(47637512_47639552)del, MSH2(NM_000251.2):c.(?_-125)_(645+1_646-1)del)

Individual ID 00195496
Chromosome 2
Allele Maternal (inferred)
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.(?_47630206)_(47637512_47639552)del
DNA change (hg38) -
Published as 1-?_645+?del (Del ex01-03)
ISCN -
DB-ID MSH2_000863 See all 12 reported entries
Variant remarks Maternal Inferred
Reference José Luis Soto
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 INSiGHT group
Database submission license No license selected
Created by INSiGHT group
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/. _1_3i c.(?_-125)_(645+1_646-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000196466 DNA MLPA - - MSH2 1 INSiGHT group