Variant #0000417304 (NC_000002.11:g.48010255G>A, MSH6(NM_000179.2):c.-118G>A)

Individual ID 00201097
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.48010255G>A
DNA change (hg38) g.47783116G>A
Published as -118G>A
ISCN -
DB-ID MSH6_000121 See all 3 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 Thomas Hansen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 ?/. 1 c.-118G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202079 DNA SEQ - - MLH1, MSH2, MSH6, PMS2 1 Thomas Hansen