Variant #0000414647 (NC_000007.13:g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup], PMS2(NM_000535.6):g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup])

Individual ID 00200583
Chromosome 7
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup]
DNA change (hg38) -
Published as -
ISCN -
DB-ID PMS2_000326 See all 2 reported entries
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 Julia Vogt
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 +/. 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201553 DNA;RNA arrayCNV;MLPA;PCR - - PMS2 2 Julia Vogt