Variant #0000749101 (NC_000007.13:g.6045585C>A, PMS2(NM_000535.6):c.101G>T)

Individual ID 00348240
Chromosome 7
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.6045585C>A
DNA change (hg38) -
Published as chr7_6045585_C_A
ISCN -
DB-ID PMS2_000977 See all 2 reported entries
Variant remarks not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
Reference PubMed: Dorling 2021, Journal: Dorling 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 5/60466 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner BRIDGES consortium
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 ?/. - c.101G>T r.(?) p.(Ser34Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000349470 DNA SEQ-NG - 34-gene panel PMS2 1 BRIDGES consortium