Variant #0000477913 (NC_000007.13:g.6048650T>C, PMS2(NM_000535.5):c.1A>G)

Individual ID 00234061
Chromosome 7
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.6048650T>C
DNA change (hg38) g.6009019T>C
Published as -
ISCN -
DB-ID PMS2_000256 See all 12 reported entries
Variant remarks Insight class: 4
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Grigorij Yanus
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 +/+? - c.1A>G r.(?) p.(Met1?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000235162 DNA SEQ-NG-I - - PMS2 1 Grigorij Yanus