Variant #0000414324 (NC_000007.13:g.(?_6012870)_(6048737_?)del, PMS2(NM_000535.5):c.(?_-87)_(*160_?)del)

Individual ID 00200300
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_6012870)_(6048737_?)del
DNA change (hg38) -
Published as del ex 1-15, dupPMS2CL
ISCN -
DB-ID PMS2_000007 See all 10 reported entries
Variant remarks -
Reference PubMed: van der Klift 2010
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 Carli Tops
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201270 DNA MLPA;Southern - - PMS2 1 Carli Tops