Variant #0000414327 (NC_000007.13:g.(6027252_6029430)_(6048737_?)del, PMS2(NM_000535.5):c.(?_-87)_(1144+1_1145-1)del)

Individual ID 00200302
Chromosome 7
Allele Parent #1
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.(6027252_6029430)_(6048737_?)del
DNA change (hg38) -
Published as ex01_ex10del
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 Beate Dr. Betz
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201272 DNA SEQ - - PMS2 4 Beate Dr. Betz