Unique variants in gene ETFDH

Information The variants shown are described using the NM_004453.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Reported     

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     
?/. 1 - c.-2771del VUS r.(?) p.(=) g.159590838del - C4orf46(NM_001008393.3):c.272del (p.?) - C4orf46_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-2767dup VUS r.(?) p.(=) g.159590842dup - C4orf46(NM_001008393.3):c.265_266insA (p.?) - C4orf46_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-2694G>A likely benign r.(?) p.(=) g.159590915G>A - C4orf46(NM_001008393.3):c.192C>T (p.A64=) - ETFDH_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 2 c.65A>G - r.(?) p.(Lys22Arg) g.159601649A>G - - - ETFDH_000018 - - - - Unknown - - - - - Daojun Hong
?/. 1 - c.79C>T VUS r.(?) p.(Pro27Ser) g.159601663C>T - - - ETFDH_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.92C>T benign r.(?) p.(Thr31Ile) g.159601676C>T - ETFDH(NM_004453.3):c.92C>T (p.T31I) - ETFDH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 1 2 c.158A>G pathogenic r.35_175del p.0 g.159601742A>G - - - ETFDH_000001 exon 2 skipping - - - Germline - - - - - Rikke Katrine Jentoft Olsen
+?/. 1 - c.176-636C>G - r.175_176ins176-635_176-581 p.Gly59Valfs*54 g.159602711C>G - - - ETFDH_000030 - - - - Germline - - - - - Maria Belen Perez Gonzalez
+/. 1 - c.265_266del - r.(?) p.(Gln89Valfs*6) g.159603436_159603437del - - - ETFDH_000016 - - - - Germline - - - - - Andreas Laner
+?/. 1 3 c.295C>T - r.(?) p.(Arg99Cys) g.159603466C>T - - - ETFDH_000019 - - - - De novo - - - - - Daojun Hong
?/. 1 - c.381C>T - r.(=) p.(=) g.159603552C>T - - - ETFDH_000015 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.488-47T>C - r.(=) p.(=) g.159606206T>C - - - ETFDH_000012 - - - rs190920235 Germline - MAF 0.001 - - - Andreas Laner
+?/. 1 - c.524G>A likely pathogenic r.(?) p.(Arg175His) g.159606289G>A - - - ETFDH_000031 - - - - Germline - - - - - Maria Belen Perez Gonzalez
+/. 1 5 c.579A>G pathogenic r.488_606del p.Leu164Profs*4 g.159606344A>G g.158685192A>G - - ETFDH_000040 1 more item - - - Germline yes - - - - Guorui Hu
?/. 1 - c.679C>A - r.(?) p.(Pro227Thr) g.159611572C>A - - - ETFDH_000013 Alamut: prob. damaging (0,915); Mut.Taster: disease causing - - - Germline - - - - - Andreas Laner
-?/. 1 - c.832-2A>T likely benign r.spl? p.? g.159618709A>T - ETFDH(NM_004453.2):c.832-2A>T (p.?) - ETFDH_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.832-1G>T VUS, likely benign r.spl? p.? g.159618710G>T - ETFDH(NM_004453.2):c.832-1G>T (p.?), ETFDH(NM_004453.3):c.832-1G>T - ETFDH_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/., -?/. 2 - c.834A>T VUS, likely benign r.(?) p.(Leu278Phe) g.159618713A>T - ETFDH(NM_004453.2):c.834A>T (p.(Leu278Phe)), ETFDH(NM_004453.3):c.834A>T (p.L278F) - ETFDH_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.841A>G - r.(?) p.(Ile281Val) g.159618720A>G - - - ETFDH_000014 p.Ile281Val; PolyPhen-2: benign (PSIC: 0,3) - - - Germline - - - - - Andreas Laner
+?/. 1 - c.863C>G ACMG:3 r.(?) p.(Pro288Arg) g.159618742C>G - - - ETFDH_000042 inferred in trans with c.1439G>A - - - Germline - - - - - Jorge Docampo Cordeiro
+?/. 1 8 c.920C>G - r.(?) p.(Ser307Cys) g.159618799C>G - - - ETFDH_000020 - - - - De novo - - - - - Daojun Hong
?/. 1 9 c.973G>T - r.(spl?) p.(Val325Phe?) g.159620139G>T - - - ETFDH_000017 Alamut: Polyphen-2: possibly damaging (PSIC: 0,789) - - - Germline - - - - - Andreas Laner
?/. 1 - c.1106G>C - r.(?) p.(Gly369Ala) g.159620272G>C - - - ETFDH_000002 polyphen-2: probably damaging (PSIC: 2,31) - - - Germline - - - - - Andreas Laner
?/. 1 - c.1117-2A>G - r.spl? p.? g.159624573A>G - - - ETFDH_000003 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.1141G>C - r.(?) p.(Gly381Arg) g.159624599G>C - - - ETFDH_000004 alamut:polyphen-2: probably damaging (PSIC: 1,0) - - - Germline - - - - - Andreas Laner
?/. 1 - c.1144G>A - r.(?) p.(Gly382Ser) g.159624602G>A - - - ETFDH_000005 alamut:polyphen-2: probably damaging (PSIC: 0.994) - - - Germline - - - - - Andreas Laner
?/. 1 10i c.1286-15T>A - r.(spl?) p.(?) g.159627326T>A - - - ETFDH_000006 - - - - Germline - - - - - Andreas Laner
+?/. 2 - c.1439G>A ACMG: 3, likely pathogenic r.(?) p.(Gly480Glu) g.1459627494G>A, g.159627494G>A - - - ETFDH_000032 inferred in trans with c.863C>G - - - Germline - - - - - Jorge Docampo Cordeiro, Maria Belen Perez Gonzalez
+?/., ?/. 2 11 c.1450T>C - r.(?) p.(Trp484Arg) g.159627505T>C - - - ETFDH_000007 - - - - De novo, Germline - - - - - Daojun Hong, Andreas Laner
?/. 1 - c.1544G>T - r.(?) p.(Ser515Ile) g.159627856G>T - - - ETFDH_000008 Polyphen-2: probably damaging(PSIC: 0,99) - - - Germline - - - - - Andreas Laner
?/. 1 - c.1669G>A - r.(?) p.(Glu557Lys) g.159627981G>A - - - ETFDH_000009 Polyphen-2: probably damaging (PSIC:1.977) - - - Germline - - - - - Andreas Laner
?/. 1 - c.1670A>G - r.(?) p.(Glu557Gly) g.159627982A>G - - - ETFDH_000010 Alamut:PolyPhen-2: probably damaging (PSIC:1,0) - - - Germline - - - - - Andreas Laner
+/. 1 13 c.1813del pathogenic r.(?) p.(Val605Tyrfs*34) g.159629638del g.158708486del 1812delG - ETFDH_000041 - - - - Germline - - - - - Guorui Hu
?/. 1 - c.1842C>A VUS r.(?) p.(Tyr614*) g.159629667C>A - - - ETFDH_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1852T>C - r.(?) p.(*618Glnext*13) g.159629677T>C - - - ETFDH_000011 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.*2150T>C likely benign r.(=) p.(=) g.159631829T>C - PPID(NM_005038.2):c.982-7A>G (p.(=)) - ETFDH_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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