Variant #0000414578 (NC_000007.13:g.(?_6012870)_(6031689_6035164)del, PMS2(NM_000535.6):c.(903+1_904-1)_(*160_?)del)

Individual ID 00200515
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.(?_6012870)_(6031689_6035164)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID PMS2_000197 See all 4 reported entries
Variant remarks severe colorectal cancer, multiple adenomas along with mental retardation, dysmorphic features and cafe-au-lait spots. This deletion involves exons 9-15 of PMS2 and coding regions of genes oncomodulin, TRIAD3 and FSCN1.
Reference PubMed: Will 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Michael Woods
Database submission license No license selected
Created by Michael Woods
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.6 +/. 8i_15_ c.(903+1_904-1)_(*160_?)del r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201485 DNA ? - - PMS2 2 Michael Woods