Variant #0000415496 (NC_000007.13:g.6045579_6045674delinsATTT, PMS2(NM_000535.6):c.24-12_107delinsAAAT)

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 10 reported entries
Variant remarks ICCON data, Westmead, NSW
Reference -
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 InSiGHT - John-Paul Plazzer
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 +/. 1i_2 c.24-12_107delinsAAAT r.spl? p.?