Full data view for gene WDR46

Information The variants shown are described using the NM_005452.5 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-703T>C r.(?) p.(=) Unknown - likely benign g.33257650A>G g.33289873A>G PFDN6(NM_001185181.2):c.17A>G (p.(Gln6Arg)) - PFDN6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.747G>C - - Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.747G>C - - Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.747G>C - - Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.747G>C - - Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.747G>C - - Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.747G>C - - Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.747G>C - - Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.747G>C - - Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.747G>C - - Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.747G>C - - Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.747G>C - - Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
+?/. - c.747G>C - - Unknown - likely pathogenic g.33255264C>G g.32859277C>G TIMP3 Ser156Cys - SYN3_000025 no nucleotide annotation, obsolete protein annotation, extrapolated from databases; heterozygous; article not fully available PubMed: Felbor 1995 - - Germline yes - - - - DNA SEQ, STR - - retinal disease ? PubMed: Felbor 1995 article not fully available: 12 affecteds from 1 family ? - - - - - - - 1 LOVD
?/. - c.*803C>T r.(=) p.(=) Unknown - VUS g.33246250G>A g.33278473G>A B3GALT4(NM_003782.3):c.1054G>A (p.E352K) - B3GALT4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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