Variant #0000417095 (NC_000002.11:g.(?_48010221)_(48034092_?)del, MSH6(NM_000179.2):c.(?_-152)_(*93_?)del)

Individual ID 00195420
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.(?_48010221)_(48034092_?)del
DNA change (hg38) -
Published as del MSH2 ex1_16, delTACSTD1-15,-27, del MSH6
ISCN -
DB-ID MSH6_000911 See all 5 reported entries
Variant remarks -
Reference -
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 Carli Tops
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 +/. _1_10_ c.(?_-152)_(*93_?)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000196390 DNA MLPA;MAPH - - MSH2, MSH6 2 Carli Tops