Variant #0000417144 (NC_000002.11:g.48010375G>T, MSH6(NM_000179.2):c.3G>T)

Individual ID 00200936
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.48010375G>T
DNA change (hg38) g.47783236G>T
Published as -
ISCN -
DB-ID MSH6_000056 See all 5 reported entries
Variant remarks Proband also carries the MSH6 VLP p.R1242H in trans with p.M1? and the MSH6 VLB p.N21K in cis with p.M1?
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 InSiGHT - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 +/. 1 c.3G>T r.(?) p.(Met1?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201906 DNA ? - - MSH6 3 InSiGHT - John-Paul Plazzer