All transcript variants in gene BCKDHA

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

48 entries on 1 page. Showing entries 1 - 48.
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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.15C>T likely benign r.(?) p.(=) g.41903747C>T - BCKDHA(NM_000709.3):c.15C>T (p.I5=) - BCKDHA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.34C>A benign r.(?) p.(=) g.41903766C>A - BCKDHA(NM_000709.3):c.34C>A (p.=) - BCKDHA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.55C>A VUS r.(?) p.(Gln19Lys) g.41903787C>A - BCKDHA(NM_000709.3):c.55C>A (p.(Gln19Lys)) - BCKDHA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 1i_4i c.(108+1_109-1)_(484+1_485-1)del pathogenic r.? p.(His37Valfs*3) g.(41903841_41916541)_(41920063_41925039)del - - - BCKDHA_000025 - - - - Germline - - - 0 - Maria Belen Perez Gonzalez
-/. - c.116C>A benign r.(?) p.(Pro39His) g.41916549C>A - BCKDHA(NM_000709.3):c.116C>A (p.P39H) - BCKDHA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.288C>T likely benign r.(?) p.(=) g.41916721C>T - BCKDHA(NM_000709.3):c.288C>T (p.H96=) - BCKDHA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.289-5C>T likely benign r.spl? p.? g.41916823C>T - BCKDHA(NM_000709.3):c.289-5C>T - BCKDHA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.289-4G>C likely benign r.spl? p.? g.41916824G>C - BCKDHA(NM_000709.3):c.289-4G>C (p.?) - BCKDHA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.293C>T VUS r.(?) p.(Pro98Leu) g.41916832C>T - BCKDHA(NM_000709.3):c.293C>T (p.P98L) - BCKDHA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.370C>T VUS r.(?) p.(Arg124Trp) g.41916909C>T - BCKDHA(NM_000709.3):c.370C>T (p.R124W) - BCKDHA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.376-10A>C benign r.(=) p.(=) g.41919944A>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 benign r.(=) p.(=) g.41919944A>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 likely benign r.spl? p.? g.41919950C>T - BCKDHA(NM_000709.3):c.376-4C>T (p.?) - BCKDHA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.376-4C>T likely benign r.spl? p.? g.41919950C>T - BCKDHA(NM_000709.3):c.376-4C>T (p.?) - BCKDHA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.452C>T - r.(?) p.(Thr151Met) g.41920030C>T g.41414125C>T - - BCKDHA_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
-?/. - c.452C>T likely benign r.(?) p.(Thr151Met) g.41920030C>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 likely benign r.(?) p.(Thr151Met) g.41920030C>T - BCKDHA(NM_000709.3):c.452C>T (p.T151M) - BCKDHA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.486T>G likely benign r.(?) p.(=) g.41925041T>G - BCKDHA(NM_000709.3):c.486T>G (p.(=)) - BCKDHA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.517C>T likely benign r.(?) p.(=) g.41925072C>T - BCKDHA(NM_000709.3):c.517C>T (p.=) - BCKDHA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.648G>T likely benign r.(?) p.(=) g.41928070G>T - BCKDHA(NM_000709.3):c.648G>T (p.A216=) - BCKDHA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.659C>T pathogenic r.(?) p.(Ala220Val) g.41928081C>T - - - BCKDHA_000024 - - - - Germline - - - 0 - Maria Belen Perez Gonzalez
?/. - c.664G>A VUS r.(?) p.(Ala222Thr) g.41928086G>A - BCKDHA(NM_000709.3):c.664G>A (p.A222T) - BCKDHA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.708C>T likely benign r.(?) p.(=) g.41928130C>T - BCKDHA(NM_000709.3):c.708C>T (p.=) - BCKDHA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.708C>T likely benign r.(?) p.(=) g.41928130C>T - BCKDHA(NM_000709.3):c.708C>T (p.=) - BCKDHA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.719C>G VUS r.(?) p.(Ala240Gly) g.41928141C>G - BCKDHA(NM_000709.3):c.719C>G (p.Ala240Gly) - BCKDHA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.736G>A VUS r.(?) p.(Ala246Thr) g.41928158G>A - BCKDHA(NM_000709.3):c.736G>A (p.Ala246Thr) - BCKDHA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.745G>A VUS r.(?) p.(Gly249Ser) g.41928167G>A - BCKDHA(NM_000709.3):c.745G>A (p.G249S) - BCKDHA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.840C>T benign r.(?) p.(=) g.41928262C>T - BCKDHA(NM_000709.3):c.840C>T (p.=) - BCKDHA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.861_868del - r.(?) p.(Gly288Valfs*11) g.41928541_41928548del g.41422636_41422643del chr19:g.46620381_46620388delGAGGCCCC - BCKDHA_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.941G>A VUS r.(?) p.(Arg314Gln) g.41928621G>A - BCKDHA(NM_000709.3):c.941G>A (p.R314Q) - BCKDHA_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.944G>A VUS r.(?) p.(Arg315Gln) g.41928624G>A - BCKDHA(NM_000709.3):c.944G>A (p.R315Q) - BCKDHA_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.947G>A VUS r.(?) p.(Arg316Gln) g.41928627G>A - BCKDHA(NM_000709.3):c.947G>A (p.Arg316Gln) - BCKDHA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.972C>T benign r.(?) p.(=) g.41928652C>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 benign r.(?) p.(=) g.41928652C>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 likely benign r.(?) p.(=) g.41928655C>T - BCKDHA(NM_000709.3):c.975C>T (p.=) - BCKDHA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.975C>T likely benign r.(?) p.(=) g.41928655C>T - BCKDHA(NM_000709.3):c.975C>T (p.=) - BCKDHA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1081A>G VUS r.(?) p.(Ile361Val) g.41928988A>G - BCKDHA(NM_000709.3):c.1081A>G (p.I361V) - BCKDHA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1159C>T VUS r.(?) p.(Arg387Cys) g.41929066C>T - BCKDHA(NM_000709.3):c.1159C>T (p.(Arg387Cys), p.(Arg386Cys)) - BCKDHA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1221A>G benign r.(?) p.(=) g.41930396A>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 benign r.(?) p.(=) g.41930396A>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 VUS r.(?) p.(Gln424Arg) g.41930446A>G - BCKDHA(NM_000709.3):c.1271A>G (p.(Gln424Arg), p.(Gln423Arg)) - BCKDHA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1312T>A - r.(?) p.(Tyr438Asn) g.41930487T>A g.41424582T>A - - BCKDHA_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. - c.1312T>A pathogenic r.(?) p.(Tyr438Asn) g.41930487T>A - BCKDHA(NM_000709.3):c.1312T>A (p.Y438N) - BCKDHA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*1062C>T likely benign r.(=) p.(=) g.41931575C>T - B3GNT8(NM_198540.2):c.1109G>A (p.(Arg370His)) - B3GNT8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*1228G>A VUS r.(=) p.(=) g.41931741G>A - B3GNT8(NM_198540.2):c.943C>T (p.(Arg315Cys)) - B3GNT8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*1599G>A likely benign r.(=) p.(=) g.41932112G>A - B3GNT8(NM_198540.2):c.572C>T (p.(Ala191Val)) - BCKDHA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*2034G>A VUS r.(=) p.(=) g.41932547G>A - B3GNT8(NM_198540.2):c.137C>T (p.(Thr46Met)) - B3GNT8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*2101C>T likely benign r.(=) p.(=) g.41932614C>T - B3GNT8(NM_198540.2):c.70G>A (p.(Glu24Lys)) - BCKDHA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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