Full data view for gene EOGT

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

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.71C>G r.(?) p.(Pro24Arg) Unknown - likely benign g.69058927G>C g.69009776G>C EOGT(NM_001278689.1):c.71C>G (p.P24R) - EOGT_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.78_81del r.(?) p.(His27Alafs*46) Unknown - pathogenic g.69058919_69058922del - EOGT(NM_001278689.1):c.78_81delTCAC (p.H27Afs*46) - EOGT_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.155A>G r.(?) p.(His52Arg) Unknown - likely benign g.69058843T>C g.69009692T>C EOGT(NM_001278689.1):c.155A>G (p.(His52Arg)) - EOGT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.300C>T r.(?) p.(=) Unknown - likely benign g.69057590G>A - EOGT(NM_001278689.2):c.300C>T (p.(Val100=)) - EOGT_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.471C>T r.(?) p.(Thr157=) Unknown - likely benign g.69054335G>A g.69005184G>A EOGT(NM_001278689.1):c.471C>T (p.T157=) - EOGT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.562A>T r.(?) p.(Lys188*) Parent #1 - likely benign g.69053587T>A g.69004436T>A - - EOGT_000022 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116711473 Germline - 14/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 14 Mohammed Faruq
+?/. 8 c.620G>C r.(?) p.(Trp207Ser) Both (homozygous) - likely pathogenic g.69053529C>G g.69004378C>G - - EOGT_000002 not in 460 control chromosomes PubMed: Shaheen 2013, Journal: Shaheen 2013, OMIM:var0001 - rs587776993 Germline yes - - - - DNA SEQ - - AOS - PubMed: Shaheen 2013, Journal: Shaheen 2013 4-generation family, 2 affecteds, unaffected heterozygus carrier parents F yes Saudi Arabia Arab - - - - 2 Johan den Dunnen
-?/. - c.621-9T>C r.(=) p.(=) Unknown - likely benign g.69050874A>G - EOGT(NM_001278689.2):c.621-9T>C - EOGT_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.727+8_727+11del r.(=) p.(=) Unknown - VUS g.69050750_69050753del - EOGT(NM_001278689.2):c.727+8_727+11del - EOGT_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.728-7A>C r.(=) p.(=) Unknown - likely benign g.69047272T>G g.68998121T>G EOGT(NM_001278689.1):c.728-7A>C (p.(=)) - EOGT_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.832-1448T>C r.(=) p.(=) Unknown - likely benign g.69038112A>G - EOGT(NM_001278689.1):c.888T>C (p.Y296=) - EOGT_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.832-1424T>C r.(=) p.(=) Unknown - benign g.69038088A>G - EOGT(NM_001278689.2):c.912T>C (p.Y304=) - EOGT_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.832-1049G>A r.(=) p.(=) Unknown - VUS g.69037713C>T - EOGT(NM_001278689.1):c.940G>A (p.(Ala314Thr)) - EOGT_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.832-998C>T r.(=) p.(=) Unknown - VUS g.69037662G>A g.68988511G>A EOGT(NM_001278689.1):c.991C>T (p.(Pro331Ser)) - EOGT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.832-798C>T r.(=) p.(=) Unknown - VUS g.69037462G>A - EOGT(NM_001278689.1):c.1067C>T (p.(Thr356Ile)) - EOGT_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 10i c.832-791del r.(=) p.(=) Both (homozygous) - likely pathogenic g.69037456del g.68988305del 1074delA - EOGT_000001 The c.1074delA variant corresponds to a predicted splice variant (ENST00000383701.3) which has no representation in RefSeq - - - Germline yes - - - - DNA SEQ - - AOS4 - - - M yes (Israel) Bedouin - - - - 1 Idan Cohen
+?/? 10i c.832-791del r.(=) p.(=) Both (homozygous) - likely pathogenic g.69037456del g.68988305del 1074delA - EOGT_000001 - - - - Germline yes - - - - DNA PCRdig - - AOS4 - - - M yes (Israel) Bedouin - - - - 1 Idan Cohen
?/. - c.959A>G r.(?) p.(Tyr320Cys) Unknown - VUS g.69031965T>C - EOGT(NM_001278689.2):c.1211A>G (p.Y404C) - EOGT_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.961A>G r.(?) p.(Arg321Gly) Unknown - likely benign g.69031963T>C - EOGT(NM_001278689.1):c.1213A>G (p.(Arg405Gly)) - EOGT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1053C>T r.(?) p.(Phe351=) Unknown - likely benign g.69028848G>A g.68979697G>A EOGT(NM_001278689.1):c.1305C>T (p.F435=) - EOGT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1074del r.(?) p.(Phe359Leufs*13) Both (homozygous) - likely pathogenic g.69028827del g.68979676del - - EOGT_000003 not in 460 control chromosomes PubMed: Shaheen 2013, Journal: Shaheen 2013, OMIM:var0002 - rs587776994 Germline yes - - - - DNA SEQ - - AOS - PubMed: Shaheen 2013, Journal: Shaheen 2013 4-generation family, 2 affected nephews, unaffected carrier parents M yes Saudi Arabia Arab - - - - 2 Johan den Dunnen
+/. - c.1074del r.(?) p.(Phe359Leufs*13) Both (homozygous) - pathogenic (recessive) g.69028827del g.68979676del NM_173654.2:c.1074delA:p.(Phe359Leufs*13) - EOGT_000003 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG2152 PubMed: Maddirevula 2018 family M yes - Arab - - - - 1 LOVD
+/. - c.1074del r.(?) p.(Phe359Leufs*13) Both (homozygous) - pathogenic (recessive) g.69028827del g.68979676del NM_173654.2:c.1074delA:p.(Phe359Leufs*13) - EOGT_000003 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 13DG1066, 13DG1067 PubMed: Maddirevula 2018 family, 2 affected (2M) M yes - Arab - - - - 2 LOVD
+?/. 14 c.1130G>A r.(?) p.(Arg377Lys) Both (homozygous) - likely pathogenic g.69027539C>T g.68978388C>T Arg377Gln - EOGT_000004 not in 460 control chromosomes PubMed: Shaheen 2013, Journal: Shaheen 2013, OMIM:var0003 - rs587776995 Germline yes - - - - DNA SEQ - - AOS - PubMed: Shaheen 2013, Journal: Shaheen 2013 5-generation family, 4 affecteds (3F, 1M), unaffected carrier parents - yes Saudi Arabia Arab - - - - 4 Johan den Dunnen
+/. - c.1130G>A r.(?) p.(Arg377Lys) Both (homozygous) - likely pathogenic (recessive) g.69027539C>T g.68978388C>T NM_173654.2:c.1130G>A:p.(Arg377Lys) - EOGT_000004 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG2526, 12DG2529, 12DG2530 PubMed: Maddirevula 2018 family, 3 affected (2F, M) F;M yes - Arab - - - - 3 LOVD
?/. - c.1156C>T r.(?) p.(Arg386Trp) Unknown - VUS g.69027513G>A - EOGT(NM_001278689.1):c.1408C>T (p.(Arg470Trp)) - EOGT_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*475C>T r.(=) p.(=) Unknown - likely benign g.69026294G>A - EOGT(NM_001278689.1):c.*475C>T (p.(=)) - EOGT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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