Variant #0000074615 (NC_000007.13:g.6012939dup, PMS2(NM_000535.6):c.*92dup)

Chromosome 7
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.6012939dup
DNA change (hg38) g.5973308dup
Published as -
ISCN -
DB-ID PMS2_000043 See all 9 reported entries
Variant remarks Insight class: 1
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner InSiGHT - John-Paul Plazzer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 -/- 15 c.*92dup r.(?) p.(=)