All variants in the ETFA gene

Information The variants shown are described using the NM_000126.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.-40G>A r.(?) p.(=) - likely pathogenic g.76603769C>T - ETFA(NM_000126.4):c.-40G>A - ETFA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.7C>T r.(?) p.(Arg3Ter) - pathogenic g.76603723G>A g.76311382G>A - - ETFA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.20C>T r.(?) p.(Pro7Leu) - VUS g.76603710G>A g.76311369G>A - - ETFA_000001 alamut: benigne - - - Germline - - - - - Andreas Laner
?/. - c.20C>T r.(?) p.(Pro7Leu) - VUS g.76603710G>A g.76311369G>A - - ETFA_000001 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen
-?/. - c.20C>T r.(?) p.(Pro7Leu) ACMG likely benign g.76603710G>A g.76311369G>A - - ETFA_000001 - PubMed: Bartsakoulia 2018 - - Germline - - - - - Johan den Dunnen
?/. - c.39G>A r.(?) p.(=) - VUS g.76603691C>T - ETFA(NM_000126.4):c.39G>A (p.(Ala13=)) - ETFA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.299A>G r.(?) p.(Gln100Arg) - VUS g.76584824T>C - ETFA(NM_000126.4):c.299A>G (p.(Gln100Arg)) - ETFA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.413T>C r.(?) p.(Ile138Thr) - VUS g.76580225A>G g.76287884A>G - - ETFA_000003 Polyphen: probably damaging: PSIC: 0,964 - - - Germline - - - - - Andreas Laner
?/. - c.505C>T r.(?) p.(Arg169Cys) - VUS g.76578769G>A - ETFA(NM_000126.4):c.505C>T (p.(Arg169Cys)) - ETFA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.512C>T r.(?) p.(Thr171Ile) - benign g.76578762G>A g.76286421G>A ETFA(NM_000126.4):c.512C>T (p.T171I) - ETFA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.563-2A>G r.spl? p.? - likely pathogenic g.76578081T>C - ETFA(NM_000126.4):c.563-2A>G - ETFA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.664+1_664+2del r.spl? p.? - likely pathogenic g.76577976_76577977del - ETFA(NM_000126.4):c.664+1_664+2del - ETFA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.728C>G r.(?) p.(Ala243Gly) - VUS g.76576103G>C g.76283762G>C ETFA(NM_000126.4):c.728C>G (p.A243G) - ETFA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.743C>T r.(?) p.(Ser248Phe) - VUS g.76566826G>A g.76274485G>A ETFA(NM_000126.3):c.743C>T (p.(Ser248Phe)) - ETFA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.743C>T r.(?) p.(Ser248Phe) - likely pathogenic g.76566826G>A - ETFA(NM_000126.3):c.743C>T (p.(Ser248Phe)) - ETFA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.744C>T r.(=) p.(=) - VUS g.76566825G>A g.76274484G>A - - ETFA_000002 - - - - Germline - - - - - Andreas Laner
+?/. 9 c.751G>A r.(?) p.(Ala251Thr) - likely pathogenic g.76566818C>T g.76274477C>T - - ETFA_000013 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.797C>T r.(?) p.(Thr266Met) - pathogenic g.76566772G>A g.76274431G>A - - ETFA_000004 - - - - Germline - - - - - Andreas Laner
+/. - c.797C>T r.(?) p.(Thr266Met) - pathogenic g.76566772G>A - ETFA(NM_000126.4):c.797C>T (p.(Thr266Met)) - ETFA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.997A>G r.(?) p.(Lys333Glu) - VUS g.76508905T>C - ETFA(NM_000126.4):c.997A>G (p.(Lys333Glu)) - ETFA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*268A>G r.(=) p.(=) - likely benign g.76508632T>C g.76216291T>C - - ETFA_000011 48 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80292319 Germline - 48/2763 individuals - - - Mohammed Faruq
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