Variant #0000415284 (NC_000007.13:g.6036980G>C, PMS2(NM_000535.6):c.780C>G)

Individual ID 00201022
Chromosome 7
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.6036980G>C
DNA change (hg38) g.5997349G>C
Published as -
ISCN -
DB-ID PMS2_000030 See all 142 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.80151 View details
Owner Jack Ji
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 -/. 7 c.780C>G r.(=) p.Ser260=



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201992 DNA SEQ - screen date 2016-01-01 MLH1, MSH2, MSH6, PMS2 8 Jack Ji