All transcript variants in gene EOGT

Information The variants shown are described using the NM_173654.1 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.71C>G likely benign r.(?) p.(Pro24Arg) g.69058927G>C - EOGT(NM_001278689.1):c.71C>G (p.P24R) - EOGT_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.210+5G>A benign r.spl? p.? g.69058783C>T - EOGT(NM_001278689.1):c.210+5G>A - EOGT_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.465A>G benign r.(?) p.(=) g.69054341T>C - EOGT(NM_001278689.1):c.465A>G (p.R155=) - EOGT_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.515+24dup benign r.(=) p.(=) g.69054267dup - EOGT(NM_001278689.1):c.515+24dupA - EOGT_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 8 c.620G>C - r.(?) p.(Trp207Ser) g.69053529C>G - - - EOGT_000002 not in 460 control chromosomes PubMed: Shaheen 2013, Journal: Shaheen 2013, OMIM:var0001 - rs587776993 Germline yes - - 0 - Johan den Dunnen
-/. - c.620+82T>A benign r.(=) p.(=) g.69053447A>T - EOGT(NM_001278689.1):c.620+82T>A - EOGT_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.728-7A>C likely benign r.(=) p.(=) g.69047272T>G - EOGT(NM_001278689.1):c.728-7A>C (p.(=)) - EOGT_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.831+21C>T benign r.(=) p.(=) g.69047141G>A - EOGT(NM_001278689.1):c.831+21C>T - EOGT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.832-1553T>C benign r.(=) p.(=) g.69038217A>G - EOGT(NM_001278689.1):c.832-49T>C - EOGT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.832-998C>T VUS r.(=) p.(=) g.69037662G>A - EOGT(NM_001278689.1):c.991C>T (p.(Pro331Ser)) - EOGT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.832-969C>G benign r.(=) p.(=) g.69037633G>C - EOGT(NM_001278689.1):c.996+24C>G - EOGT_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/? 10i c.832-791delA - r.(=) p.(=) g.69037455delT - 1074delA - EOGT_000001 The c.1074delA variant corresponds to a predicted splice variant (ENST00000383701.3) which has no representation in RefSeq - - - Germline yes - - 0 - Idan Cohen
+?/? 10i c.832-791delA - r.(=) p.(=) g.69037455delT - 1074delA - EOGT_000001 - - - - Germline yes - - 0 - Idan Cohen
-/. - c.832-43C>T benign r.(=) p.(=) g.69036707G>A - EOGT(NM_001278689.1):c.1084-43C>T - EOGT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.832-19C>T benign r.(=) p.(=) g.69036683G>A - EOGT(NM_001278689.1):c.1084-19C>T - EOGT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.832-14C>G benign r.(=) p.(=) g.69036678G>C - EOGT(NM_001278689.1):c.1084-14C>G - EOGT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.900+71del benign r.(=) p.(=) g.69036537del - EOGT(NM_001278689.1):c.1152+71delT - EOGT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1053C>T likely benign r.(?) p.(=) g.69028848G>A - EOGT(NM_001278689.1):c.1305C>T (p.F435=) - EOGT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 13 c.1074delA - r.(?) p.(Phe359Leufs*13) g.69028827delT - - - EOGT_000003 not in 460 control chromosomes PubMed: Shaheen 2013, Journal: Shaheen 2013, OMIM:var0002 - rs587776994 Germline yes - - 0 - Johan den Dunnen
+?/. 14 c.1130G>A - r.(?) p.(Arg377Lys) g.69027539C>T - Arg377Gln - EOGT_000004 not in 460 control chromosomes PubMed: Shaheen 2013, Journal: Shaheen 2013, OMIM:var0003 - rs587776995 Germline yes - - 0 - Johan den Dunnen
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