All variants in the SNX14 gene

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

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 19i c.1894+1G>A r.1810_1894del p.Ala603_Gly632del - pathogenic g.86239909C>T g.85530191C>T - - SNX14_000003 - PubMed: Thomas 2014 - - Germline yes - - 0 - Marianne Vos (LOVD-team)
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