Variant #0000414449 (NC_000007.13:g.6048973C>A, PMS2(NM_000535.5):c.-323G>T)

Individual ID 00200408
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.6048973C>A
DNA change (hg38) g.6009342C>A
Published as -
ISCN -
DB-ID PMS2_000002 See all 2 reported entries
Variant remarks -
Reference PubMed: Hendriks 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.2415 View details
Owner Juul Wijnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 ?/. _1 c.-323G>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201378 DNA SEQ - - PMS2 1 Juul Wijnen