Variant #0000414393 (NC_000007.13:g.6045521A>G, PMS2(NM_000535.6):c.163+2T>C)

Individual ID 00200364
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.6045521A>G
DNA change (hg38) g.6005890A>G
Published as -
ISCN -
DB-ID PMS2_000206 See all 4 reported entries
Variant remarks minigene: out of frame skip exon 2, full length not excluded. Patient RNA : out of frame skip exon 2, no full length transcript.
Reference PubMed: van der Klift 2010, PubMed: van der Klift 2015
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 +/. 2i c.163+2T>C r.24_163del p.Ser8Argfs*5



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201334 DNA;RNA RT-PCR;SEQ - - PMS2 1 Carli Tops