Genomic variant #0000414245

Individual ID 00187030
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6045600C>G
DNA change (hg38) -
Published as c.86C>G
ISCN -
DB-ID PMS2_000370 See all 3 reported entries
Variant remarks Variant reported on ClinVar. Bioinformatically highly suspect in DNA mismatch and repair Domain, AA und Nuk highly conserved.
Reference InSiGHT Variant Interpretation Committee April 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00027 View details
Owner Elke Holinski-Feder




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 ?/. 2 c.86G>C VUS r.(?) p.(Gly29Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000187999 DNA ? - - PMS2 1 Elke Holinski-Feder