All transcript variants in gene APTX

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

3 entries on 1 page. Showing entries 1 - 3.
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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.847A>G r.(?) p.(Asn283Asp) - VUS g.32974483T>C g.32974485T>C APTX(NM_001195248.1):c.889A>G (p.(Asn297Asp)), APTX(NM_175073.2):c.847A>G (p.N283D) - APTX_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? 8 c.847A>G r.(?) p.(Asn283Asp) - VUS g.32974483T>C g.32974485T>C - - APTX_000039 - PubMed: Avan Minkelen 2015 - - Germline - - - 0 - Rick van Minkelen
-?/. - c.847A>G r.(?) p.(Asn283Asp) - likely benign g.32974483T>C g.32974485T>C APTX(NM_001195248.1):c.889A>G (p.(Asn297Asp)), APTX(NM_175073.2):c.847A>G (p.N283D) - APTX_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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