Variant #0000414337 (NC_000007.13:g.6045579_6045674delinsATTT, PMS2(NM_000535.5):c.24-12_107delinsAAAT)

Individual ID 00200312
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.6045579_6045674delinsATTT
DNA change (hg38) g.6005948_6006043delinsATTT
Published as -
ISCN -
DB-ID PMS2_000205 See all 9 reported entries
Variant remarks 96bp deletion across intron1-exon2 border
Reference PubMed: van der Klift 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Carli Tops
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 +/. 1i_2 c.24-12_107delinsAAAT r.24_163del p.Ser8Argfs*5



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201282 DNA MLPA;PCR;SEQ - - PMS2 1 Carli Tops