All transcript variants in gene APTX

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

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/. 8 c.837G>A - r.(?) p.(Trp279*) g.32974493C>T g.32974495C>T - - APTX_000004 - - - - Germline - - - 0 - Andreas Laner
+/. - c.837G>A pathogenic r.(?) p.(Trp279*) g.32974493C>T - APTX(NM_175073.2):c.837G>A (p.(Trp279*)) - APTX_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 8 c.837G>A ACMG: 5 r.(?) p.(Trp279*) g.32974493C>T - - - APTX_000004 ACMG grading: PM2,PM3,PVS1,PP5 - - rs104894103 Germline - - - 0 - Andreas Laner
+/+ 8 c.837G>A pathogenic (recessive) r.(?) p.(Trp279*) g.32974493C>T - - - APTX_000004 - - - - Germline - - - 0 - Sergio Piñeiro
+/+ 8 c.837G>A pathogenic (recessive) r.(?) p.(Trp279*) g.32974493C>T - - - APTX_000004 - - - - Germline - - - 0 - Sergio Piñeiro
+/+ 8 c.837G>A pathogenic (recessive) r.(?) p.(Trp279*) g.32974493C>T - - - APTX_000004 - - - - Germline - - - 0 - Sergio Piñeiro
+/+ 8 c.837G>A pathogenic (recessive) r.(?) p.(Trp279*) g.32974493C>T - - - APTX_000004 - PubMed: Moreira 2001 - - Germline - - - 0 - Sergio Piñeiro
+/+ 8 c.837G>A pathogenic (recessive) r.(?) p.(Trp279*) g.32974493C>T - - - APTX_000004 - PubMed: Moreira 2001 - - Germline - - - 0 - Sergio Piñeiro
+/+ 8 c.837G>A pathogenic (recessive) r.(?) p.(Trp279*) g.32974493C>T - - - APTX_000004 - PubMed: Moreira 2001 - - Germline - - - 0 - Sergio Piñeiro
+/+ 8 c.837G>A pathogenic (recessive) r.(?) p.(Trp279*) g.32974493C>T - - - APTX_000004 - PubMed: Moreira 2001 - - Germline - - - 0 - Sergio Piñeiro
+/+ 8 c.837G>A pathogenic (recessive) r.(?) p.(Trp279*) g.32974493C>T - - - APTX_000004 - PubMed: Moreira 2001 - - Germline - - - 0 - Sergio Piñeiro
+/+ 8 c.837G>A pathogenic (recessive) r.(?) p.(Trp279*) g.32974493C>T - - - APTX_000004 - - - - Germline - - - 0 - Sergio Piñeiro
+/+ 8 c.837G>A pathogenic (recessive) r.(?) p.(Trp279*) g.32974493C>T - - - APTX_000004 - PubMed: Moreira 2001 - - Germline - - - 0 - Sergio Piñeiro
+/+ 8 c.837G>A pathogenic (recessive) r.(?) p.(Trp279*) g.32974493C>T - - - APTX_000004 - - - - Germline - - - 0 - Sergio Piñeiro
+/+ 8 c.837G>A pathogenic (recessive) r.(?) p.(Trp279*) g.32974493C>T - - - APTX_000004 - - - - Germline - - - 0 - Rick van Minkelen
+/+ 8 c.837G>A pathogenic (recessive) r.(?) p.(Trp279*) g.32974493C>T - - - APTX_000004 - - - - Germline - - - 0 - Rick van Minkelen
+/+ 8 c.837G>A pathogenic (recessive) r.(?) p.(Trp279*) g.32974493C>T - - - APTX_000004 - - - - Germline - - - 0 - Rick van Minkelen
+/. - c.837G>A pathogenic r.(?) p.(Trp279*) g.32974493C>T - APTX(NM_175073.2):c.837G>A (p.(Trp279*)) - APTX_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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