Variant #0000414322 (NC_000007.13:g.(?_6012870)_(6048737_?)del, PMS2(NM_000535.6):c.(?_-87)_(*160_?)del)

Individual ID 00200298
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 deletion of Exon1-15 and duplication of 3' related gene (c.1-?_2589?del).
ISCN -
DB-ID PMS2_000007 See all 10 reported entries
Variant remarks -
Reference PubMed: Hendriks 2006
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 Michael Woods
Database submission license No license selected
Created by Michael Woods
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     
0000201268 DNA ? - - PMS2 1 Michael Woods