All transcript variants in gene APTX

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

2 entries on 1 page. Showing entries 1 - 2.
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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.203T>C r.(?) p.(Ile68Thr) - VUS g.32987822A>G g.32987824A>G APTX(NM_175073.2):c.203T>C (p.I68T) - APTX_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? 5 c.203T>C r.(?) p.(Ile68Thr) - VUS g.32987822A>G g.32987824A>G - - APTX_000046 - PubMed: van Minkelen 2015 - - Germline - - - 0 - Rick van Minkelen
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