All transcript variants in gene CEP89

Information The variants shown are described using the NM_032816.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.-2319G>A likely benign r.(?) p.(=) g.33465099C>T - FAAP24(NM_152266.4):c.377C>T (p.S126F) - C19orf40_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-2254T>C likely benign r.(?) p.(=) g.33465034A>G - FAAP24(NM_152266.4):c.312A>G (p.L104=) - C19orf40_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-2254T>C likely benign r.(?) p.(=) g.33465034A>G - FAAP24(NM_152266.4):c.312A>G (p.L104=) - C19orf40_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-1632C>T VUS r.(?) p.(=) g.33464412G>A - FAAP24(NM_152266.4):c.187G>A (p.E63K) - C19orf40_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.412_413del likely benign r.(?) p.(Lys138Glyfs*16) g.33444600_33444601del - CEP89(NM_032816.4):c.412_413delAA (p.K138Gfs*16) - CEP89_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.844A>T VUS r.(?) p.(Lys282*) g.33424399T>A - CEP89(NM_032816.4):c.844A>T (p.K282*) - CEP89_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.886G>A VUS r.(?) p.(Val296Ile) g.33424357C>T - CEP89(NM_032816.5):c.886G>A (p.V296I) - CEP89_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend