Full data view for gene ETFB

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

75 entries on 1 page. Showing entries 1 - 75.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.(?_-13592)_(417_?)del VUS r.0? p.0? Unknown g.(51856545_51857476)_(51871484_51880000)del - g.51857476_51871484del - ETFB_000010 - PubMed: Giugliano 2018 - - Germline - - - 0 - DNA arrayCGH - - MYOP Patient XIII PubMed: Giugliano 2018 - F - Italy - - 0 - - 1 Teresa Giugliano
-/. - c.119A>C benign r.(?) p.(Glu40Ala) Unknown g.51857774T>G - ETFB:c.119A>C (E40A) - ETFB_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.119A>C likely benign r.(?) p.(Glu40Ala) Unknown g.51857774T>G - ETFB:c.119A>C (E40A) - ETFB_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.278C>T VUS r.(?) p.(Pro93Leu) Unknown g.51857615G>A - ETFB:c.278C>T (P93L) - ETFB_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.280dup benign r.(?) p.(Ser95Phefs*7) Unknown g.51857613dup - ETFB:c.278dupC (P94Tfs*8) - ETFB_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - ABL - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 JPT/HAN‐HapMap sample F - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Both (homozygous) g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.734C>T - r.(?) p.(Thr245Met) Unknown g.51850290G>A g.51347036G>A - - ETFB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
-/. - c.734C>T benign r.(?) p.(Thr245Met) Unknown g.51850290G>A - ETFB:c.734C>T (T245M) - ETFB_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.979G>A VUS r.(?) p.(Gly327Ser) Unknown g.51848527C>T - ETFB:NM_001014763.1:c.979G>A, NM_001163922.1:c.-3149G>A, … - ETFB_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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