Variant #0000414334 (NC_000007.13:g.6048650T>C, PMS2(NM_000535.6):c.1A>G)

Individual ID 00200309
Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.6048650T>C
DNA change (hg38) g.6009019T>C
Published as c.1A>G
ISCN -
DB-ID PMS2_000256 See all 15 reported entries
Variant remarks -
Reference Mark Jenkins; John Hopper
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 INSiGHT group
Database submission license No license selected
Created by INSiGHT group
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     
0000201279 DNA SEQ - - PMS2 1 INSiGHT group