Full data view for gene SNX14

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. 12i_21i c.1108+1181_2108-2342del r.(del) p.(Glu370_Leu702del) Both (homozygous) - pathogenic g.86230111_86255652del g.85520393_85545934del - - SNX14_000002 - PubMed: Thomas 2014 - - Germline yes - - 0 - DNA arraySNP, SEQ - - ID - PubMed: Thomas 2014 5 generation family; 4 affected; older sister of 25439728_Fam2_IV.2; 2nd aunt of 25439728_Fam2_V.1 and 25439728_Fam2_V.2. F yes Turkey - - 0 pedigree available - 1 Marianne Vos (LOVD-team)
+/. 12i_21i c.1108+1181_2108-2342del r.(del) p.(Glu370_Leu702del) Both (homozygous) - pathogenic g.86230111_86255652del g.85520393_85545934del - - SNX14_000002 - PubMed: Thomas 2014 - - Germline yes - - 0 - DNA arraySNP, SEQ - - ID - PubMed: Thomas 2014 5 generation family; younger brother of 25439728_Fam2_IV.1; 2nd uncle to 25439728_Fam2_V.1 and 25439728_Fam2_V.2 M yes Turkey - - 0 pedigree available - 1 Marianne Vos (LOVD-team)
+/. 12i_21i c.1108+1181_2108-2342del r.(del) p.(Glu370_Leu702del) Both (homozygous) - pathogenic g.86230111_86255652del g.85520393_85545934del - - SNX14_000002 - PubMed: Thomas 2014 - - Germline yes - - 0 - DNA arraySNP, SEQ - - ID - PubMed: Thomas 2014 5 generation family; sister to 25439728_Fam2_V.2; 2nd cousin to 25439728_Fam2_IV.1 and 25439728_Fam2_IV.2 F yes Turkey - - 0 pedigree available - 1 Marianne Vos (LOVD-team)
+/. 12i_21i c.1108+1181_2108-2342del r.(del) p.(Glu370_Leu702del) Both (homozygous) - pathogenic g.86230111_86255652del g.85520393_85545934del - - SNX14_000002 - PubMed: Thomas 2014 - - Germline yes - - 0 - DNA arraySNP, SEQ - - ID - PubMed: Thomas 2014 5 generation family; younger brother of 25439728_Fam2_V.1; 2nd nephew of 25439728_Fam2_IV.1 and 25439728_Fam2_IV.2 M yes Turkey - - 0 pedigree available - 1 Marianne Vos (LOVD-team)
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