Full data view for gene SNX14

Information The variants shown are described using the NM_153816.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/. 26 c.2596C>T r.(?) p.(Gln866*) Both (homozygous) - likely pathogenic g.86223575G>A g.85513857G>A - - SNX14_000001 - PubMed: Thomas 2014 - - Germline yes - - - - DNA arraySNP, SEQ - - ID - PubMed: Thomas 2014 5-generation family, sister of 25439728_Fam1_IV.6 F yes Portugal - - - - - 1 Marianne Vos (LOVD-team)
+/. 26 c.2596C>T r.(?) p.(Gln866*) Both (homozygous) - pathogenic g.86223575G>A g.85513857G>A - - SNX14_000001 - PubMed: Thomas 2014 - - Germline yes - - - - DNA arraySNP, SEQ - - ID - PubMed: Thomas 2014 5 generation family; younger sister of 25439728_Fam1_IV.3; 4 unaffected siblings. F yes Portugal - - - pedigree available - 1 Marianne Vos (LOVD-team)
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