Genomic variant #0000414594

Individual ID 00195121
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_6012870)_(6048737_?)del
DNA change (hg38) -
Published as MLH1:c.198C>T; PMS2:c.(?_-87)_(*160_?)del
ISCN -
DB-ID PMS2_000007 See all 10 reported entries
Variant remarks -
Reference Mark Jenkins
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 INSiGHT group




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 +/. _1_15_ c.(?_-87)_(*160_?)del pathogenic r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000196090 DNA ? - - MLH1, PMS2 2 INSiGHT group