Genomic variant #0000063709

Individual ID 00036514
Chromosome 7
Allele Parent #1
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.6043673G>C
DNA change (hg38) g.6004042G>C
Published as -
ISCN -
DB-ID PMS2_000239 See all 10 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00046 View details
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 ?/. 3 c.180C>G r.(?) p.(Asp60Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036584 DNA SEQ - - PMS2 1 Andreas Laner