Variant #0000417464 (NC_000002.11:g.48010416C>T, MSH6(NM_000179.2):c.44C>T)

Individual ID 00201778
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.48010416C>T
DNA change (hg38) g.47783277C>T
Published as 44C>T
ISCN -
DB-ID MSH6_000914
Variant remarks WT MaxEntScan score: 7.38; Variant MaxEntScan score: 7.38; Difference in MaxEntScan score between variant and WT (%): 0
Reference ClinVar, PubMed: Rossi 2017
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 Mev Dominguez Valentin
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 ?/. 1 c.44C>T r.(?) p.Pro15Leu



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202809 DNA ? - - - 1 Mev Dominguez Valentin