LOVD - Variant listings for PCNT

About this overview [Show]

Patient data (#0003181)
Disease SCKL1
Phenotype additional -
Remarks Sloping forehead, prominent nose, retrognathia. Normal skeletal xrays, though significantly retarded bone age. IQ 50. Normal MRI brain.
Reference Elen Griffith et al, 2008
Geographic origin Morocco
Ethnic origin -
Inheritance familial
Consang. -
Age_exam 3
Age_onset -
MR -
# Reported 1
Submitter Emmelien Aten

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
Exon 18
DNA change c.3568dupT   (View in UCSC Genome Browser, Ensembl)
Var_pub_as 3568_3569insT
RNA change r.(?)
Protein p.(Cys1190Leufs*4)
DB-ID PCNT_00016
Variant remarks -
Reference Elen Griffith et al, 2008
Template DNA
Technique SEQ
Frequency -
Re-site -
Genetic origin -

2 entries in PCNT

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
Re-site Descending
Ascending
Genetic origin Descending
Ascending
+/? Paternal (confirmed) 18 c.3568dupT 3568_3569insT r.(?) p.(Cys1190Leufs*4) PCNT_00016 - Elen Griffith et al, 2008 DNA SEQ - - -
+/? Maternal (confirmed) 18 c.3568dupT 3568_3569insT r.(?) p.(Cys1190Leufs*4) PCNT_00016 - Elen Griffith et al, 2008 DNA SEQ - - -