Variant #0000414335 (NC_000007.13:g.6048650T>C, PMS2(NM_000535.6):c.1A>G)

Individual ID 00200310
Chromosome 7
Allele Maternal (confirmed)
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.6048650T>C
DNA change (hg38) g.6009019T>C
Published as -
ISCN -
DB-ID PMS2_000256 See all 15 reported entries
Variant remarks -
Reference Ian Berry, Leeds Genetics Laboratory
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Ian Berry
Database submission license No license selected
Created by Ian Berry
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 +/. 1 c.1A>G r.(?) p.(Met1?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201280 DNA ? - - PMS2 2 Ian Berry