Variant #0000415060 (NC_000007.13:g.6045627C>G, PMS2(NM_000535.6):c.59G>C)

Individual ID 00200949
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.6045627C>G
DNA change (hg38) g.6005996C>G
Published as -
ISCN -
DB-ID PMS2_000372
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Sira Moreno
Database submission license No license selected
Created by Sira Moreno
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 ?/. 2 c.59G>C r.(?) p.(Arg20Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201919 DNA SEQ-NG-I - screen data 2017-09-27 PMS2 1 Sira Moreno