Variant #0000845031 (NC_000002.11:g.48010399_48010411del, MSH6(NM_000179.2):c.27_39del)

Individual ID 00406908
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.48010399_48010411del
DNA change (hg38) g.47783260_47783272del
Published as 27_39delCTTCTTCCCCAAG
ISCN -
DB-ID MSH6_011005
Variant remarks -
Reference PubMed: Jiang 2022
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency 1/486 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 +/. - c.27_39del r.(?) p.(Phe10LeufsTer4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000408154 DNA SEQ-NG - 81-gene panel - 1 Johan den Dunnen