LOVD - Variant listings for PDE4D

About this overview [Show]

Patient data (#0008867)
Patient ID 6
Disease Acrodysostosis
Phenotype additional Intrauterine growth retardation; advanced bone age; nasal hypoplasia; depressed nasal bridge; severe brachydactyly; short metatarsals, metacarpals, and phalanges; cone-shaped epiphyses; speech delay requiring orthophony, fine-motor-skill impairment; intracranial hypertension with jugular stenosis requiring derivation
Remarks -
Ref_pat-pheno Michot et al 2012
Inherit familial, autosomal dominant
Consang. -
Fam_Pat -
# Reported 1
Geographic origin France
Ethnic origin -
Gender M
Phenotype/Onset -
Histology -

Variant data
Allele Parent #1
Reported pathogenicity Unknown
Concluded pathogenicity Probably pathogenic
Exon 5
DNA change c.490C>A   (View in UCSC Genome Browser, Ensembl)
Var_pub_as NM_001104631.1:c.673C>A
RNA change r.(?)
Protein p.(Pro164Thr)
DB-ID PDE4D_00001
Variant remarks -
Genetic origin -
Reference Michot et al 2012
Template DNA
Technique SEQ-NG-I
Frequency -
Restriction-site MlyI-

2 entries in PDE4D

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
Genetic origin Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
Restriction-site Descending
Ascending
-/- Parent #2 1_17 c.= - r.(=) p.(=) PDE4D_00002 2nd normal chromosome - - DNA SEQ-NG-I - -
?/+? Parent #1 5 c.490C>A NM_001104631.1:c.673C>A r.(?) p.(Pro164Thr) PDE4D_00001 - - Michot et al 2012 DNA SEQ-NG-I - MlyI-