Variant #0000063708 (NC_000007.13:g.6048616A>G, PMS2(NM_000535.5):c.23+12T>C)

Individual ID 00036513
Chromosome 7
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.6048616A>G
DNA change (hg38) g.6008985A>G
Published as -
ISCN -
DB-ID PMS2_000387
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 Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 -/. 1i c.23+12T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036583 DNA SEQ - - PMS2 1 Andreas Laner