Variant #0000414331 (NC_000007.13:g.6048650T>C, PMS2(NM_000535.6):c.1A>G)

Individual ID 00200306
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.6048650T>C
DNA change (hg38) g.6009019T>C
Published as -
ISCN -
DB-ID PMS2_000256 See all 15 reported entries
Variant remarks -
Reference PubMed: Senter 2008
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 Michael Woods
Database submission license No license selected
Created by Michael Woods
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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     
0000201276 DNA ? - - PMS2 2 Michael Woods