Variant #0000415346 (NC_000007.13:g.6048618C>G, PMS2(NM_000535.5):c.23+10G>C)

Individual ID 00201421
Chromosome 7
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.6048618C>G
DNA change (hg38) g.6008987C>G
Published as c.23+10G>C
ISCN -
DB-ID PMS2_000340 See all 7 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00238 View details
Owner Thomas Hansen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 -?/. 1i c.23+10G>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202451 DNA SEQ - - MLH1, MSH2, MSH6, PMS2 1 Thomas Hansen