Variant #0000074626 (NC_000007.13:g.6048990C>A, PMS2(NM_000535.5):c.-340G>T)

Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.6048990C>A
DNA change (hg38) g.6009359C>A
Published as -
ISCN -
DB-ID PMS2_000001 See all 2 reported entries
Variant remarks Insight class: 3
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner InSiGHT - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 ?/? _1 c.-340G>T r.(?) p.(=)