Variant #0000414649 (NC_000007.13:g.5992485_6028601del, PMS2(NM_000535.6):c.1145-1350_*20545del)

Individual ID 00200584
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.5992485_6028601del
DNA change (hg38) g.5952854_5988970del
Published as g.54564-54582_41826-41844del
ISCN -
DB-ID PMS2_000334 See all 2 reported entries
Variant remarks -
Reference PubMed: van der Klift 2005, PubMed: Hendriks 2006; PubMed: van der Klift 2010
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 Carli Tops
Database submission license No license selected
Created by Carli Tops
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 +/. 11_15 c.1145-1350_*20545del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201554 DNA PCR;SEQ;Southern - - PMS2 1 Carli Tops