All transcript variants in gene BCKDHA

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

50 entries on 1 page. Showing entries 1 - 50.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.-585del r.(?) p.(=) - - g.41903148del - - - chr19_006720 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.15C>T r.(?) p.(Ile5=) - likely benign g.41903747C>T g.41397842C>T BCKDHA(NM_000709.3):c.15C>T (p.I5=) - BCKDHA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.34C>A r.(?) p.(Arg12=) - benign g.41903766C>A g.41397861C>A BCKDHA(NM_000709.3):c.34C>A (p.R12=) - BCKDHA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.55C>A r.(?) p.(Gln19Lys) - VUS g.41903787C>A g.41397882C>A BCKDHA(NM_000709.3):c.55C>A (p.(Gln19Lys)) - BCKDHA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. 1i_4i c.(108+1_109-1)_(484+1_485-1)del r.? p.(His37Valfs*3) - pathogenic g.(41903841_41916541)_(41920063_41925039)del - - - BCKDHA_000025 - - - - Germline - - - 0 - Belen Perez
-/. - c.116C>A r.(?) p.(Pro39His) - benign g.41916549C>A g.41410644C>A BCKDHA(NM_000709.3):c.116C>A (p.P39H) - BCKDHA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.250C>T r.(?) p.(Arg84Trp) - - g.41916683C>T - BCKDHA(NM_000709.3):c.250C>T (p.R84W) - chr19_006721 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.288C>T r.(?) p.(His96=) - likely benign g.41916721C>T g.41410816C>T BCKDHA(NM_000709.3):c.288C>T (p.H96=) - BCKDHA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.288C>T r.(?) p.(His96=) - likely benign g.41916721C>T g.41410816C>T BCKDHA(NM_000709.3):c.288C>T (p.H96=) - BCKDHA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.288+9C>T r.(=) p.(=) - VUS g.41916730C>T g.41410825C>T - - BCKDHA_000039 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs398123497 Germline - 1/2793 individuals - 0 - Mohammed Faruq
-?/. - c.289-5C>T r.spl? p.? - likely benign g.41916823C>T g.41410918C>T BCKDHA(NM_000709.3):c.289-5C>T - BCKDHA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.293C>T r.(?) p.(Pro98Leu) - VUS g.41916832C>T g.41410927C>T BCKDHA(NM_000709.3):c.293C>T (p.P98L) - BCKDHA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.370C>T r.(?) p.(Arg124Trp) - VUS g.41916909C>T g.41411004C>T BCKDHA(NM_000709.3):c.370C>T (p.R124W) - BCKDHA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.376-10A>C r.(=) p.(=) - benign g.41919944A>C g.41414039A>C BCKDHA(NM_000709.3):c.376-10A>C - BCKDHA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.376-10A>C r.(=) p.(=) - benign g.41919944A>C g.41414039A>C BCKDHA(NM_000709.3):c.376-10A>C - BCKDHA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.376-4C>T r.spl? p.? - likely benign g.41919950C>T g.41414045C>T BCKDHA(NM_000709.3):c.376-4C>T - BCKDHA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.452C>T r.(?) p.(Thr151Met) - VUS g.41920030C>T g.41414125C>T - - BCKDHA_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
-?/. - c.452C>T r.(?) p.(Thr151Met) - likely benign g.41920030C>T g.41414125C>T BCKDHA(NM_000709.3):c.452C>T (p.T151M) - BCKDHA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.452C>T r.(?) p.(Thr151Met) - likely benign g.41920030C>T g.41414125C>T BCKDHA(NM_000709.3):c.452C>T (p.T151M) - BCKDHA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.452C>T r.(?) p.(Thr151Met) - likely benign g.41920030C>T g.41414125C>T - - BCKDHA_000002 18 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs34442879 Germline - 18/2795 individuals - 0 - Mohammed Faruq
-?/. - c.517C>T r.(?) p.(Leu173=) - likely benign g.41925072C>T g.41419167C>T BCKDHA(NM_000709.3):c.517C>T (p.L173=) - BCKDHA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.648G>T r.(?) p.(Ala216=) - likely benign g.41928070G>T g.41422165G>T BCKDHA(NM_000709.3):c.648G>T (p.A216=) - BCKDHA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.659C>T r.(?) p.(Ala220Val) - pathogenic g.41928081C>T g.41422176C>T - - BCKDHA_000024 - - - - Germline - - - 0 - Belen Perez
?/. - c.664G>A r.(?) p.(Ala222Thr) - VUS g.41928086G>A g.41422181G>A BCKDHA(NM_000709.3):c.664G>A (p.A222T) - BCKDHA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.708C>T r.(?) p.(Phe236=) - likely benign g.41928130C>T g.41422225C>T BCKDHA(NM_000709.3):c.708C>T (p.F236=) - BCKDHA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.708C>T r.(?) p.(Phe236=) - likely benign g.41928130C>T g.41422225C>T BCKDHA(NM_000709.3):c.708C>T (p.F236=) - BCKDHA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.719C>G r.(?) p.(Ala240Gly) - VUS g.41928141C>G g.41422236C>G - - BCKDHA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.736G>A r.(?) p.(Ala246Thr) - VUS g.41928158G>A g.41422253G>A - - BCKDHA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.745G>A r.(?) p.(Gly249Ser) - VUS g.41928167G>A g.41422262G>A BCKDHA(NM_000709.3):c.745G>A (p.G249S) - BCKDHA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.840C>T r.(?) p.(Arg280=) - benign g.41928262C>T g.41422357C>T BCKDHA(NM_000709.3):c.840C>T (p.R280=) - BCKDHA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.861_868del r.(?) p.(Gly288Valfs*11) - VUS g.41928541_41928548del g.41422636_41422643del chr19:g.46620381_46620388delGAGGCCCC - BCKDHA_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.941G>A r.(?) p.(Arg314Gln) - VUS g.41928621G>A g.41422716G>A BCKDHA(NM_000709.3):c.941G>A (p.R314Q) - BCKDHA_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.944G>A r.(?) p.(Arg315Gln) - VUS g.41928624G>A g.41422719G>A BCKDHA(NM_000709.3):c.944G>A (p.R315Q) - BCKDHA_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.947G>A r.(?) p.(Arg316Gln) - VUS g.41928627G>A g.41422722G>A - - BCKDHA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.972C>T r.(?) p.(Phe324=) - benign g.41928652C>T g.41422747C>T BCKDHA(NM_000709.3):c.972C>T (p.F324=) - BCKDHA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.972C>T r.(?) p.(Phe324=) - benign g.41928652C>T g.41422747C>T BCKDHA(NM_000709.3):c.972C>T (p.F324=) - BCKDHA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.975C>T r.(?) p.(Leu325=) - likely benign g.41928655C>T g.41422750C>T BCKDHA(NM_000709.3):c.975C>T (p.L325=) - BCKDHA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.975C>T r.(?) p.(Leu325=) - likely benign g.41928655C>T g.41422750C>T BCKDHA(NM_000709.3):c.975C>T (p.L325=) - BCKDHA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.979G>A r.(?) p.(Glu327Lys) - likely pathogenic g.41928659G>A g.41422754G>A - - BCKDHA_000040 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs398123515 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.1081A>G r.(?) p.(Ile361Val) - VUS g.41928988A>G g.41423083A>G BCKDHA(NM_000709.3):c.1081A>G (p.I361V) - BCKDHA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1159C>T r.(?) p.(Arg387Cys) - VUS g.41929066C>T g.41423161C>T BCKDHA(NM_000709.3):c.1159C>T (p.(Arg387Cys)) - BCKDHA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1192G>A r.(?) p.(Glu398Lys) - VUS g.41930367G>A g.41424462G>A BCKDHA(NM_000709.3):c.1192G>A (p.E398K) - BCKDHA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1221A>G r.(?) p.(Leu407=) - benign g.41930396A>G g.41424491A>G BCKDHA(NM_000709.3):c.1221A>G (p.L407=) - BCKDHA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1221A>G r.(?) p.(Leu407=) - benign g.41930396A>G g.41424491A>G BCKDHA(NM_000709.3):c.1221A>G (p.L407=) - BCKDHA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1271A>G r.(?) p.(Gln424Arg) - VUS g.41930446A>G g.41424541A>G BCKDHA(NM_000709.3):c.1271A>G (p.(Gln424Arg)) - BCKDHA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1312T>A r.(?) p.(Tyr438Asn) - VUS g.41930487T>A g.41424582T>A - - BCKDHA_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. - c.1312T>A r.(?) p.(Tyr438Asn) - pathogenic g.41930487T>A g.41424582T>A BCKDHA(NM_000709.3):c.1312T>A (p.Y438N) - BCKDHA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*1228G>A r.(=) p.(=) - VUS g.41931741G>A g.41425836G>A B3GNT8(NM_198540.2):c.943C>T (p.(Arg315Cys)) - B3GNT8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.*1935C>T r.(=) p.(=) - likely benign g.41932448C>T g.41426543C>T B3GNT8(NM_198540.2):c.236G>A (p.R79Q) - BCKDHA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*2034G>A r.(=) p.(=) - VUS g.41932547G>A g.41426642G>A B3GNT8(NM_198540.2):c.137C>T (p.(Thr46Met)) - B3GNT8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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