Variant #0000813610 (NC_000007.13:g.(?_6013029)_(6037055_?)del, PMS2(NM_000535.6):c.(?_706-1)_(*1_?)del)

Individual ID 00384967
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_6013029)_(6037055_?)del
DNA change (hg38) -
Published as g.6013030_6037054del
ISCN -
DB-ID PMS2_001008
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Gemeinschaftspraxis für Humangenetik Dresden
Database submission license No license selected
Created by Gemeinschaftspraxis für Humangenetik Dresden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 +/. - c.(?_706-1)_(*1_?)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386194 DNA SEQ-NG - - BRCA1, BRCA2, CHEK2, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51C 1 Gemeinschaftspraxis für Humangenetik Dresden