All transcript variants in gene ACOT9

Information The variants shown are described using the NM_001033583.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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     
-?/. - c.566A>G likely benign r.(?) p.(His189Arg) g.23731321T>C - ACOT9(NM_001037171.1):c.593A>G (p.H198R) - ACOT9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.566A>G - r.(?) p.(His189Arg) g.23731321T>C - - - ACOT9_000026 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.566A>G likely benign r.(?) p.(His189Arg) g.23731321T>C - ACOT9(NM_001037171.1):c.593A>G (p.H198R) - ACOT9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.566A>G likely benign r.(?) p.(His189Arg) g.23731321T>C - ACOT9(NM_001037171.1):c.593A>G (p.H198R) - ACOT9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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