Unique variants in the ETFB gene

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

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Reported     

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     
+?/. 1 _1_2i c.(?_-1904)_(144_217-1)del r.0? p.0? - VUS g.(51856545_51857476)_(51871484_51880000)del - g.51857476_51871484del - ETFB_000010 - PubMed: Giugliano 2018 - - Germline - - - - - Teresa Giugliano
?/. 1 - c.-1704C>T r.(?) p.(=) - VUS g.51871284G>A g.51368030G>A CLDND2(NM_152353.2):c.170-4C>T (p.?) - CLDND2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.58-212A>C r.(=) p.(=) - benign, likely benign g.51857774T>G g.51354520T>G ETFB(NM_001014763.1):c.119A>C (p.E40A) - ETFB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.58-176C>T r.(=) p.(=) - VUS g.51857738G>A g.51354484G>A - - ETFB_000003 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.58-53C>T r.(=) p.(=) - VUS g.51857615G>A g.51354361G>A ETFB(NM_001014763.1):c.278C>T (p.P93L) - ETFB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.58-53dup r.(=) p.(=) - benign g.51857619dup g.51354365dup ETFB(NM_001014763.1):c.278dupC (p.P94Tfs*8) - ETFB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.145G>C r.(?) p.(Ala49Pro) - likely pathogenic g.51857475C>G g.51354221C>G - - ETFB_000009 - - - - Germline - - - - - Belen Perez
?/. 1 - c.256G>A r.(?) p.(Gly86Ser) - VUS g.51856505C>T - ETFB(NM_001985.2):c.256G>A (p.G86S) - ETFB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.278C>T r.(?) p.(Pro93Leu) - likely benign g.51856483G>A g.51353229G>A ETFB(NM_001014763.1):c.551C>T (p.P184L) - ETFB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.292C>T r.(?) p.(Arg98Cys) - VUS g.51856469G>A - ETFB(NM_001014763.1):c.565C>T (p.R189C) - ETFB_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.343_345del r.(?) p.(Glu115del) - likely pathogenic g.51856418_51856420del g.51353164_51353166del 343_345delGAG - ETFB_000008 - - - - Germline - - - - - Belen Perez
?/. 1 - c.376-61G>T r.(=) p.(=) - VUS g.51853706C>A g.51350452C>A - - ETFB_000002 - - - - Germline - - - - - Andreas Laner
-/., ?/. 69 - c.461C>T r.(?) p.(Thr154Met) - benign, VUS g.51850290G>A g.51347036G>A ETFB(NM_001014763.1):c.734C>T (p.T245M) - ETFB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Gerard C.P. Schaafsma, VKGL-NL_Groningen
?/. 1 - c.577G>A r.(?) p.(Ala193Thr) - VUS g.51850174C>T g.51346920C>T - - ETFB_000015 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200186078 Germline - 3/2795 individuals - - - Mohammed Faruq
?/. 1 - c.706G>A r.(?) p.(Gly236Ser) - VUS g.51848527C>T g.51345273C>T ETFB(NM_001014763.1):c.979G>A (p.(Gly327Ser)) - ETFB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.709G>A r.(?) p.(Val237Ile) - likely benign g.51848524C>T g.51345270C>T ETFB(NM_001014763.1):c.982G>A (p.V328I) - ETFB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*4607G>T r.(=) p.(=) - VUS g.51843858C>A g.51340604C>A VSIG10L(NM_001163922.2):c.1018G>T (p.G340*) - VSIG10L_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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