View individual #00000194

Reference Price et al. 1998
Remarks US origin: Virginia
Panel size 1
Diseases AI unclassified
Owner name Claire Smith


Phenotypes

Amelogenesis imperfecta - not classified (AI unclassified)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000198 All affected reported to have kinky/curly hair as infants, no unaffected subjects had kinky or curly hair. Marked osseous changes radiographically compared with the unaffected. Affected subjects also exhibited obliteration of diploe and a complete lack of visible mastoid pneumatisation. Osseous changes evident in proband, they were much more pronounced in mother. Proband had teeth with small clinical crowns and thin enamel. Radiographically, taurodontism was present in all the molars. Previously reported by Lichtenstein et al. 1972, PMID:5054226. Familial, autosomal dominant Claire Smith



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000195 DNA SEQ DLX3 1 Claire Smith



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

AscendingDNA change (genomic)     

Reference     

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Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
17 Maternal (confirmed) g.48069171_48069174delCCCC Price et al. 1998 DLX3_000006 - Claire Smith +/+ 3 NM_005220.2:c.571_574delGGGG r.(?) p.(Gly191Argfs*66)
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