All transcript variants in gene APTX

Information The variants shown are described using the NM_175073.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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     
-?/. - c.971A>T r.(?) p.(Gln324Leu) - likely benign g.32973554T>A g.32973556T>A APTX(NM_001195249.1):c.971A>T (p.Q324L) - APTX_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.971A>T r.(?) p.(Gln324Leu) - likely benign g.32973554T>A g.32973556T>A APTX(NM_001195249.1):c.971A>T (p.Q324L) - APTX_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.971A>T r.(?) p.(Gln324Leu) - benign g.32973554T>A g.32973556T>A APTX(NM_001195249.1):c.971A>T (p.Q324L) - APTX_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/- 9 c.971A>T r.(?) p.(Gln324Leu) - benign g.32973554T>A g.32973556T>A - - APTX_000031 - PubMed: van Minkelen 2015 - - Germline - - - 0 - Rick van Minkelen
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