Variant #0000415423 (NC_000007.13:g.6048556G>A, PMS2(NM_000535.5):c.23+72C>T)

Individual ID 00201807
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.6048556G>A
DNA change (hg38) g.6008925G>A
Published as c.23+72C>T
ISCN -
DB-ID PMS2_000423 See all 13 reported entries
Variant remarks WT MaxEntScan score: 8.7; Variant MaxEntScan score: 8.7; Difference in MaxEntScan score between variant and WT (%): 0
Reference InSiGHT, PubMed: Rossi 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.21215 View details
Owner Mev Dominguez Valentin
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 ?/. 1i c.23+72C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202838 DNA ? - - - 1 Mev Dominguez Valentin