Variant #0000415345 (NC_000007.13:g.6048650T>C, PMS2(NM_000535.5):c.1A>G)

Individual ID 00201420
Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.6048650T>C
DNA change (hg38) g.6009019T>C
Published as c.1A>G
ISCN -
DB-ID PMS2_000256 See all 12 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Thomas Hansen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 +?/. 1 c.1A>G r.(?) p.Met1Val



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202450 DNA SEQ - - MLH1, MSH2, MSH6, PMS2 1 Thomas Hansen