Variant #0000415443 (NC_000007.13:g.(?_6012870)_(6048737_?)del, PMS2(NM_000535.6):c.(?_-87)_(*160_?)del)

Individual ID 00202216
Chromosome 7
Allele Unknown
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.(?_6012870)_(6048737_?)del
DNA change (hg38) -
Published as c.1-?_2586+?del Whole gene deletion
ISCN -
DB-ID PMS2_000007 See all 10 reported entries
Variant remarks -
Reference PubMed: Lagerstedt-Robinson 2016
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 Kristina Lagerstedt Robinson
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 +/. _1_15_ c.(?_-87)_(*160_?)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203247 DNA ? - - - 1 Kristina Lagerstedt Robinson