Variant #0000414429 (NC_000007.13:g.6012939dup, PMS2(NM_000535.6):c.*92dup)

Individual ID 00200394
Chromosome 7
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.6012939dup
DNA change (hg38) g.5973308dup
Published as 780G>C (S260S), 1621G>A (E541K)
ISCN -
DB-ID PMS2_000043 See all 9 reported entries
Variant remarks -
Reference PubMed: Clendenning 2006
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 Michael Woods
Database submission license No license selected
Created by Michael Woods
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 ?/. 15 c.*92dup r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201364 DNA ? - - PMS2 5 Michael Woods