Full data view for gene BCKDHA

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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

Allele     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Template     

Technique     

Disease     

Reference     

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Ethnic origin     

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