Genomic variant #0000408233

Individual ID 00183266
Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48026466del
DNA change (hg38) -
Published as -
ISCN -
DB-ID MSH6_001042
Variant remarks ACMG grading: PVS1+PM2 class 4
Reference -
ClinVar ID -
dbSNP ID rs34248409
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MSH6 NM_000179.2 +?/. 4 c.1344del ACMG: 4 r.(?) p.(Leu449Trpfs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184223 DNA SEQ-NG-I - - MSH2, MSH6 1 Andreas Laner