Unique variants in the BCKDHA gene

Information The variants shown are described using the NM_000709.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
?/. 1 1i c.108+6T>C - r.(=) p.(=) - ClinVar g.41397941T>C - Ernie Zuraida Ali et al.(2018), dbSNP ,ClinVar BCKDHA_000004 rs1600956430 1/2 - Nuur Athirah Binti Mohd Daud
+/. 2 4 c.431G>T - r.(?) p.(Ser144Ile) - ClinVar g.41414104G>T - Ernie Zuraida Ali et al. (2018),dbSNP,ClinVar, Ernie Zuraida Ali et al.(2013) BCKDHA_000003 rs398124652 1/3 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
?/. 1 5 c.527C>T - r.(?) p.(Ala176Val) - ClinVar g.41419177C>T - Ernie Zuraida Ali et al. (2018),dbSNP,ClinVar BCKDHA_000002 rs201955081 1/3 - Nuur Athirah Binti Mohd Daud
?/. 1 8 c.1087C>T - r.(?) p.(Arg363Trp) - ClinVar g.41423089C>T - Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar BCKDHA_000001 rs942815730 1/3 - Nuur Athirah Binti Mohd Daud
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