Variant #0000652340 (NC_000007.13:g.6043691T>C, PMS2(NM_000535.5):c.164-2A>G)

Individual ID 00294483
Chromosome 7
Allele Parent #1
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.6043691T>C
DNA change (hg38) g.6004060T>C
Published as -
ISCN -
DB-ID PMS2_000244 See all 3 reported entries
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs587779324
Origin Germline
Segregation -
Frequency 1/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 +?/. - c.164-2A>G r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295651 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq