Variant #0000415358 (NC_000007.13:g.6043443A>C, PMS2(NM_000535.5):c.251-20T>G)

Individual ID 00201431
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.6043443A>C
DNA change (hg38) g.6003812A>C
Published as c.251-20T>G
ISCN -
DB-ID PMS2_000344 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00077 View details
Owner Thomas Hansen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 ?/. 3i c.251-20T>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202461 DNA SEQ - - MLH1, MSH2, MSH6, PMS2 1 Thomas Hansen