Genomic variant #0000414326

Individual ID 00200301
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(6027252_6029430)_(6048737_?)del
DNA change (hg38) -
Published as del ex01-10
ISCN -
DB-ID PMS2_000179 See all 3 reported entries
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 Peter Propping, Prof. Dr. med.
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 +/. _1_10i c.(?_-87)_(1144+1_1145-1)del pathogenic r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201271 DNA PCR;SEQ - - PMS2 1 Peter Propping, Prof. Dr. med.