Variant #0000074607 (NC_000007.13:g.6043691T>C, PMS2(NM_000535.5):c.164-2A>G)

Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.6043691T>C
DNA change (hg38) g.6004060T>C
Published as -
ISCN -
DB-ID PMS2_000244 See all 3 reported entries
Variant remarks Insight class: 4
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 +?/+? 2i c.164-2A>G r.164_171del p.Asp55Alafs*2