Variant #0000417463 (NC_000002.11:g.48010395_48010398del, MSH6(NM_000179.2):c.23_26del)

Individual ID 00201777
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.48010395_48010398del
DNA change (hg38) g.47783256_47783259del
Published as 23_26delACAG
ISCN -
DB-ID MSH6_000913
Variant remarks WT MaxEntScan score: 7.38; Variant MaxEntScan score: 7.38; Difference in MaxEntScan score between variant and WT (%): 0
Reference 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.23_26del r.(?) p.Tyr8SerfsTer8



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202808 DNA ? - - - 1 Mev Dominguez Valentin