Genomic variant #0000414283

Individual ID 00188759
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.6026514G>A
DNA change (hg38) g.5986883G>A
Published as -
ISCN -
DB-ID PMS2_000058 See all 18 reported entries
Variant remarks Submitted by ICCon – South Australia
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 ICCon
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 ?/. 11 c.1882C>T r.(?) p.(Arg628*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189728 DNA SEQ - - PMS2 1 ICCon