Full data view for gene DTHD1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001170700.2 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.-2111T>G r.(?) p.(=) Unknown - VUS g.36283591T>G - DTHD1(NM_001170700.3):c.211T>G (p.(Ser71Ala)) - DTHD1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.2T>C r.(?) p.(Met1?) Both (homozygous) - pathogenic g.36285703T>C g.36284081T>C - - DTHD1_000001 - PubMed: Abu-Safieh-2013 - - Unknown - - - - - DNA SEQ-NG-I - - LCA - PubMed: Abu-Safieh-2013 - - - - - - - - - 1 Leen Abu Safieh
-?/. - c.249G>A r.(?) p.(Gln83=) Unknown - likely benign g.36285950G>A - DTHD1(NM_001170700.3):c.624G>A (p.Q208=) - DTHD1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.459T>C r.(?) p.(Thr153=) Unknown - likely benign g.36286160T>C - DTHD1(NM_001170700.2):c.459T>C (p.T153=), DTHD1(NM_001170700.3):c.834T>C (p.T278=) - DTHD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.459T>C r.(?) p.(Thr153=) Unknown - likely benign g.36286160T>C - DTHD1(NM_001170700.2):c.459T>C (p.T153=), DTHD1(NM_001170700.3):c.834T>C (p.T278=) - DTHD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.527T>A r.(?) p.(Leu176Gln) Unknown - benign g.36292009T>A g.36290387T>A DTHD1(NM_001170700.2):c.527T>A (p.L176Q) - DTHD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.535G>A r.(?) p.(Val179Ile) Unknown - VUS g.36292017G>A g.36290395G>A G535A - DTHD1_000021 - PubMed: Katagiri 2014 - rs200576831 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#010 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
-?/. - c.560A>T r.(?) p.(Tyr187Phe) Unknown - likely benign g.36292042A>T - DTHD1(NM_001170700.2):c.560A>T (p.(Tyr187Phe)) - DTHD1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.600C>T r.(?) p.(Cys200=) Unknown - likely benign g.36292082C>T - DTHD1(NM_001170700.2):c.600C>T (p.C200=) - DTHD1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.660C>T r.(?) p.(Asn220=) Unknown - likely benign g.36292142C>T g.36290520C>T DTHD1(NM_001170700.2):c.660C>T (p.N220=) - DTHD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.843+1G>T r.spl? p.? Unknown - pathogenic g.36292326G>T g.36290704G>T DTHD1(NM_001170700.2):c.843+1G>T - DTHD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.915G>A r.(?) p.(Ser305=) Unknown - likely benign g.36295219G>A g.36293597G>A DTHD1(NM_001170700.2):c.915G>A (p.S305=) - DTHD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.920C>T r.(?) p.(Thr307Ile) Unknown ACMG VUS g.36295224C>T g.36293602C>T DTHD1:NM_001170700 c.C920T, p.T307I - DTHD1_000025 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-125 PubMed: Rodriguez-Munoz 2020 family fRPN-50, proband F - Spain - - - - - 1 LOVD
-/. - c.1024-6G>C r.(=) p.(=) Unknown - benign g.36296411G>C g.36294789G>C DTHD1(NM_001170700.3):c.1399-6G>C - DTHD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1174C>G r.(?) p.(Pro392Ala) Unknown - VUS g.36296567C>G - DTHD1(NM_001170700.2):c.1174C>G (p.P392A) - DTHD1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1324T>C r.(?) p.(Leu442=) Unknown - likely benign g.36307868T>C - DTHD1(NM_001170700.2):c.1324T>C (p.L442=) - DTHD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1442T>C r.(?) p.(Leu481Pro) Unknown - VUS g.36309837T>C g.36308215T>C - - DTHD1_000020 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case29303 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
-/. - c.1581G>A r.(?) p.(Val527=) Unknown - benign g.36309976G>A g.36308354G>A DTHD1(NM_001170700.3):c.1956G>A (p.V652=) - DTHD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1669C>T r.(?) p.(Arg557Ter) Unknown - VUS g.36310064C>T g.36308442C>T DTHD1(NM_001170700.2):c.1669C>T (p.R557*) - DTHD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1707C>T r.(?) p.(Asn569=) Unknown - likely benign g.36310102C>T - DTHD1(NM_001136536.5):c.1212C>T (p.N404=), DTHD1(NM_001170700.2):c.1707C>T (p.N569=) - DTHD1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1707C>T r.(?) p.(Asn569=) Unknown - likely benign g.36310102C>T - DTHD1(NM_001136536.5):c.1212C>T (p.N404=), DTHD1(NM_001170700.2):c.1707C>T (p.N569=) - DTHD1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1720+18T>G r.(=) p.(=) Unknown - likely benign g.36310133T>G g.36308511T>G DTHD1(NM_001170700.3):c.2095+18T>G - DTHD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1809C>T r.(?) p.(Asp603=) Unknown - likely benign g.36317952C>T g.36316330C>T DTHD1(NM_001170700.2):c.1809C>T (p.D603=) - DTHD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1820del r.(?) p.(Asn607ThrfsTer21) Unknown - VUS g.36317963del g.36316341del DTHD1(NM_001170700.2):c.1820delA (p.N607Tfs*21) - DTHD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1906G>C r.(?) p.(Val636Leu) Unknown - likely benign g.36318049G>C - DTHD1(NM_001170700.2):c.1906G>C (p.V636L) - DTHD1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1930T>C r.(?) p.(Leu644=) Unknown - likely benign g.36318073T>C g.36316451T>C DTHD1(NM_001170700.2):c.1930T>C (p.L644=) - DTHD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1940G>T r.(?) p.(Cys647Phe) Unknown - VUS g.36318083G>T - DTHD1(NM_001170700.2):c.1940G>T (p.C647F) - DTHD1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1956del r.(?) p.(Lys652AsnfsTer8) Unknown - VUS g.36318099del g.36316477del DTHD1(NM_001170700.2):c.1956delA (p.K652Nfs*8) - DTHD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1966-18G>A r.(=) p.(=) Unknown - benign g.36340716G>A g.36339094G>A DTHD1(NM_001170700.3):c.2341-18G>A - DTHD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2121_2129del r.(?) p.(Tyr708_Leu710del) Unknown ACMG VUS g.36345224_36345232del g.36343602_36343610del DTHD1:NM_001170700 c.2121_2129del, p.707_710del - DTHD1_000006 error in annotation: c.2121_2129del causes p.(Tyr708_Leu710del) and not p.707_710del, heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-326 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
-?/. - c.2124_2132del r.(?) p.(Gln709_Ile711del) Unknown - likely benign g.36345224_36345232del g.36343602_36343610del DTHD1(NM_001170700.2):c.2124_2132delTCAGCTCAT (p.(Gln709_Ile711del)), DTHD1(NM_001170700.3):c.2499_2507delTCAGCTCAT (p.Q834_I836del) - DTHD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2124_2132del r.(?) p.(Gln709_Ile711del) Unknown - likely benign g.36345224_36345232del - DTHD1(NM_001170700.2):c.2124_2132delTCAGCTCAT (p.(Gln709_Ile711del)), DTHD1(NM_001170700.3):c.2499_2507delTCAGCTCAT (p.Q834_I836del) - DTHD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2245C>A r.(?) p.(Arg749Ser) Unknown - benign g.36345345C>A g.36343723C>A DTHD1(NM_001170700.2):c.2245C>A (p.R749S), DTHD1(NM_001170700.3):c.2620C>A (p.R874S) - DTHD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2245C>A r.(?) p.(Arg749Ser) Unknown - VUS g.36345345C>A - DTHD1(NM_001170700.2):c.2245C>A (p.R749S), DTHD1(NM_001170700.3):c.2620C>A (p.R874S) - DTHD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2245C>A r.(?) p.(Arg749Ser) Unknown ACMG VUS g.36345345C>A g.36343723C>A DTHD1:NM_001170700 c.C2245A, p.R749S - DTHD1_000007 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-608 PubMed: Rodriguez-Munoz 2020 family fRPN-238, proband F - Spain - - - - - 1 LOVD
?/. - c.2245C>A r.(?) p.(Arg749Ser) Unknown ACMG VUS g.36345345C>A g.36343723C>A DTHD1:NM_001170700 c.C2245A, p.R749S - DTHD1_000007 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-325 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
?/. - c.2245C>T r.(?) p.(Arg749Cys) Unknown - VUS g.36345345C>T g.36343723C>T DTHD1(NM_001170700.2):c.2245C>T (p.R749C), DTHD1(NM_001170700.3):c.2620C>T (p.R874C) - DTHD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2245C>T r.(?) p.(Arg749Cys) Unknown - VUS g.36345345C>T g.36343723C>T DTHD1(NM_001170700.2):c.2245C>T (p.R749C), DTHD1(NM_001170700.3):c.2620C>T (p.R874C) - DTHD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2260del r.(?) p.(Ser754ValfsTer25) Unknown - VUS g.36345360del g.36343738del DTHD1(NM_001170700.3):c.2635delA (p.S879Vfs*25) - DTHD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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