Variant #0000063448 (NC_000002.11:g.48009925G>A, MSH6(NM_000179.2):c.-448G>A)

Individual ID 00036253
Chromosome 2
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.48009925G>A
DNA change (hg38) g.47782786G>A
Published as -
ISCN -
DB-ID MSH6_000591 See all 12 reported entries
Variant remarks found homozygeous; c.-159C>T und c.-448G>A
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 Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 -/. - c.-448G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036323 DNA SEQ - - MSH6 1 Andreas Laner