Unique variants in the BCKDHB gene

Information The variants shown are described using the NM_183050.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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 1 c.196G>T - r.(?) p.(Gly66Trp) - ClinVar g.80106889G>T G66W Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar BCKDHB_000002 rs1328608014 1/9 - Nuur Athirah Binti Mohd Daud
?/. 1 2 c.263A>G - r.(?) p.(Asp88Gly) - ClinVar g.80127613A>G D88G Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar BCKDHB_000008 rs1554097571 1/6 - Nuur Athirah Binti Mohd Daud
+/. 1 3 c.301G>A - r.(?) p.(Gly101Ser) - - g.80129187G>A G101S Ernie Zuraida Ali et al. (2018), ClinVar BCKDHB_000011 - 1 - Nuur Athirah Binti Mohd Daud
+/. 2 3 c.331C>T - r.(?) p.(Arg111*) - ClinVar g.80129217C>T R111* Ernie Zuraida Ali et al. (2018), ClinVar BCKDHB_000003 - 1/9, 2/6 - Nuur Athirah Binti Mohd Daud
+/. 1 5 c.581T>G - r.(?) p.(Leu194Arg) - ClinVar g.80168978T>G L194R Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar BCKDHB_000010 rs1057519998 1/3 - Nuur Athirah Binti Mohd Daud
+/. 1 7 c.781T>C - r.(?) p.(Ser261Pro) - ClinVar g.80200972T>C S261P Ernie Zuraida Ali et al. (2018), dbSNP ,ClinVar BCKDHB_000006 rs121918636 1/9 - Nuur Athirah Binti Mohd Daud
./. 1 7 c.802G>T - r.(?) p.(Glu268*) - ClinVar g.80200993G>T E268* Ernie Zuraida Ali et al. (2018) ,dbSNP ,ClinVar BCKDHB_000007 rs78340021 1/9 - Nuur Athirah Binti Mohd Daud
?/. 1 7 c.818C>T - r.(?) p.(Thr273Ile) - ClinVar g.80201009C>T T273I Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar BCKDHB_000009 rs1554563912 1/3 - Nuur Athirah Binti Mohd Daud
+/. 3 9 c.1016C>T - r.(?) p.(Ser339Leu) - ClinVar g.80273199C>T S339L Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar BCKDHB_000001 rs398124561 1/6, 1/9 - Nuur Athirah Binti Mohd Daud
+/. 1 9 c.1066_1067insT - r.(?) p.(Pro356Leufs*9) - - g.80343691_80343692insT V356Cfs*3 Ernie Zuraida Ali et al. (2018) BCKDHB_000012 - 1/5 - Nuur Athirah Binti Mohd Daud
+/. 1 10 c.1094C>G - r.(?) p.(Thr365Arg) - - g.80343719C>G T365R Ernie Zuraida Ali et al. (2018) BCKDHB_000004 rs1242184469 1/9 - Nuur Athirah Binti Mohd Daud
./. 2 10 c.1159C>T - r.(?) p.(Arg387*) - ClinVar, ClinVar g.80343784C>T R387* Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar BCKDHB_000005 rs751599203 1/2, 1/9 - Nuur Athirah Binti Mohd Daud
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