Genomic variant #0000415496

Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6045579_6045674delinsATTT
DNA change (hg38) -
Published as -
ISCN -
DB-ID PMS2_000205 See all 9 reported entries
Variant remarks ICCON data, Westmead, NSW
Reference -
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 InSiGHT - John-Paul Plazzer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 +/. 1i_2 c.24-12_107delinsAAAT pathogenic r.? p.?