Variant #0000417148 (NC_000002.11:g.48010435C>G, MSH6(NM_000179.2):c.63C>G)

Individual ID 00200937
Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.48010435C>G
DNA change (hg38) g.47783296C>G
Published as -
ISCN -
DB-ID MSH6_000058 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 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.63C>G r.(?) p.(Asn21Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201907 DNA ? - - MSH6 2 InSiGHT - John-Paul Plazzer