View individual #00000137

Reference Väisänen et al. 2005
Remarks Turkish origin
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     
0000000141 "Dental abnormalities". Male child with EB is homozygous for c.1834G>A, p.G612R variant. Parents both heterozygous. Familial, autosomal dominant Claire Smith



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000138 DNA SEQ COL17A1 1 Claire Smith



Variants

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

AscendingDNA change (genomic)     

Reference     

DB-ID     

Frequency     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
10 Both (homozygous) g.105813678C>T Väisänen et al. 2005 COL17A1_000006 - Claire Smith +/+ 22 NM_000494.3:c.1834G>A r.(?) p.(Gly612Arg)
Legend