Full data view for gene IMPDH1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000883.3 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

dbSNP ID     

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Disease     

ID_report     

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+/. 10 c.931G>A r.(?) p.(Asp311Asn) Both (homozygous) - pathogenic g.128038611C>T g.128398557C>T - - IMPDH1_000004 - PubMed: Li 2017 - - Germline yes - - - - DNA SEQ WBC - RPar 61004 PubMed: Li 2017 - M yes Pakistan Pakistani - - - - 1 James Hejtmancik
+/. - c.931G>A r.(?) p.(Asp311Asn) Unknown - pathogenic g.128038611C>T g.128398557C>T - - IMPDH1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.931G>A r.(?) p.(Asp311Asn) Unknown - pathogenic g.128038611C>T g.128398557C>T - - IMPDH1_000004 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs121912550 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.931G>A r.(?) p.(Asp311Asn) Parent #1 - likely pathogenic g.128038611C>T g.128398557C>T NM_001142573.1:c.676G>A - IMPDH1_000004 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.931G>A r.(?) p.(Asp311Asn) Parent #1 - pathogenic g.128038611C>T g.128398557C>T NM_001142573.1:c.676G>A - IMPDH1_000004 - PubMed: Villanueva 2018 - rs121912550 Germline yes - - - - DNA SEQ-NG - 233-gene panel retinal disease RD11 PubMed: Villanueva 2018 4-generation family, 9 affected (5F, 4M) F;M - - - - - - - 9 LOVD
?/. - c.931G>A r.(?) p.(Asp311Asn) Unknown - VUS g.128038611C>T g.128398557C>T - - IMPDH1_000004 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD11–08 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
?/. - c.931G>A r.(?) p.(Asp311Asn) Unknown - VUS g.128038611C>T g.128398557C>T - - IMPDH1_000004 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD15–03 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+?/. - c.931G>A r.(?) p.(Asp311Asn) Unknown - likely pathogenic g.128038611C>T g.128398557C>T - - IMPDH1_000004 - PubMed: Huang 2017 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease RP-121 PubMed: Huang 2017 family - - China - - - - - 1 LOVD
+?/. - c.931G>A r.(?) p.(Asp311Asn) Unknown - likely pathogenic g.128038611C>T g.128398557C>T - - IMPDH1_000004 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP053 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. - c.931G>A r.(?) p.(Asp311Asn) Unknown - pathogenic (dominant) g.128038611C>T g.128398557C>T - - IMPDH1_000004 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP339 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+?/. 10 c.931G>A r.(?) p.(Asp311Asn) Parent #1 - likely pathogenic g.128038611C>T g.128398557C>T - - IMPDH1_000004 - PubMed: Pan 2014 - - Germline - - - - - DNA SEQ-NG - 179-gene panel retinal disease Fam04 PubMed: Pan 2014 5-generation family, 10 affected (4F, 6M) - - China - - - - - 10 LOVD
+?/. 10 c.931G>A r.(?) p.(Asp311Asn) Unknown - likely pathogenic g.128038611C>T g.128398557C>T - - IMPDH1_000004 - PubMed: Martin-Merida 2018 - - Germline ? 1/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+/. 10 c.931G>A r.(?) p.(Asp311Asn) Unknown ACMG pathogenic g.128038611C>T g.128398557C>T NM_000883.3:c.931G>A, NP_000874.2:p.(Asp311Asn), NC_000007.13:g.128038611C>T - IMPDH1_000004 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016102415 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. 9 c.931G>A r.(?) p.(Asp311Asn) Unknown - likely pathogenic g.128038611C>T - c.931G>A - IMPDH1_000004 - PubMed: Sullivan-2013 - - Unknown - - - - - DNA SEQ, PCR blood - retinal disease - PubMed: Sullivan-2013 - - no - - - - - - 1 LOVD
+?/. - c.931G>A r.(?) p.(Asp311Asn) Parent #1 - likely pathogenic g.128038611C>T g.128398557C>T IMPDH1, variant 1: c.931G>A/p.D311N - IMPDH1_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 553 PubMed: Weisschuh 2020 Filing key number: 198, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.931G>A r.(?) p.(Asp311Asn) Parent #1 - likely pathogenic g.128038611C>T g.128398557C>T IMPDH1, variant 1: c.931G>A/p.D311N - IMPDH1_000004 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 554 PubMed: Weisschuh 2020 Filing key number: 198, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 10 c.931G>A r.(?) p.(Asp311Asn) Unknown ACMG pathogenic g.128038611C>T g.128398557C>T IMPDH1 c.931G>A, p.(D311N) - IMPDH1_000004 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ-NG blood gene panel testing retinal disease 191246 PubMed: Xiao-2021 - M - China - - - - - 1 LOVD
+/. 10 c.931G>A r.(?) p.(Asp311Asn) Unknown - NA g.128038611C>T g.128398557C>T D226N - IMPDH1_000004 disrupts nucleic acid binding, fails to co-immunoprecipitate RNA PubMed: Mortimer 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.931G>A r.(?) p.(Asp311Asn) Unknown - pathogenic g.128038611C>T - c.931G>A(p.Asp311Asn) - IMPDH1_000004 - - - - Germline yes - - - - DNA ? - - retinal disease P1 PubMed: Bennett-2020 - M - (United States) american Indian/white/not hispanic - - - - 1 LOVD
+/. 9 c.931G>A r.(?) p.(Asp311Asn) Unknown - pathogenic g.128038611C>T - c.931G>A(p.Asp311Asn) - IMPDH1_000004 - - - - Germline yes - - - - DNA ? - - retinal disease P2 PubMed: Bennett-2020 - F - (United States) american Indian/white/not hispanic - - - - 1 LOVD
+/. 9 c.931G>A r.(?) p.(Asp311Asn) Unknown - pathogenic g.128038611C>T - c.931G>A(p.Asp311Asn) - IMPDH1_000004 - - - - Germline yes - - - - DNA ? - - retinal disease P3 PubMed: Bennett-2020 - M - (United States) american Indian/white/not hispanic - - - - 1 LOVD
+/. 9 c.931G>A r.(?) p.(Asp311Asn) Unknown - pathogenic g.128038611C>T - c.931G>A(p.Asp311Asn) - IMPDH1_000004 - - - - Germline yes - - - - DNA ? - - retinal disease P4 PubMed: Bennett-2020 - F - (United States) white/not hispanic - - - - 1 LOVD
+/. 9 c.931G>A r.(?) p.(Asp311Asn) Unknown - pathogenic g.128038611C>T - c.931G>A(p.Asp311Asn) - IMPDH1_000004 - - - - Germline yes - - - - DNA ? - - retinal disease P5 PubMed: Bennett-2020 - F - (United States) white/not hispanic - - - - 1 LOVD
+/. 9 c.931G>A r.(?) p.(Asp311Asn) Unknown - pathogenic g.128038611C>T - c.931G>A(p.Asp311Asn) - IMPDH1_000004 - - - - Unknown yes - - - - DNA ? - - retinal disease P6 PubMed: Bennett-2020 - F - (United States) white/not hispanic - - - - 1 LOVD
+/. 9 c.931G>A r.(?) p.(Asp311Asn) Unknown - pathogenic g.128038611C>T - c.931G>A(p.Asp311Asn) - IMPDH1_000004 - - - - Germline yes - - - - DNA ? - - retinal disease P7 PubMed: Bennett-2020 - F - (United States) white/not hispanic - - - - 1 LOVD
+/. 9 c.931G>A r.(?) p.(Asp311Asn) Unknown - pathogenic g.128038611C>T - c.931G>A(p.Asp311Asn) - IMPDH1_000004 - - - - Germline yes - - - - DNA ? - - retinal disease P8 PubMed: Bennett-2020 - M - (United States) white/not hispanic - - - - 1 LOVD
+/. 9 c.931G>A r.(?) p.(Asp311Asn) Unknown - pathogenic g.128038611C>T - c.931G>A(p.Asp311Asn) - IMPDH1_000004 - - - - Germline yes - - - - DNA ? - - retinal disease P9 PubMed: Bennett-2020 - F - (United States) white/not hispanic - - - - 1 LOVD
+/. 9 c.931G>A r.(?) p.(Asp311Asn) Unknown - pathogenic g.128038611C>T - c.931G>A(p.Asp311Asn) - IMPDH1_000004 - - - - Germline yes - - - - DNA ? - - retinal disease P10 PubMed: Bennett-2020 - M - (United States) white/not hispanic - - - - 1 LOVD
+/. 9 c.931G>A r.(?) p.(Asp311Asn) Unknown - pathogenic g.128038611C>T - c.931G>A(p.Asp311Asn) - IMPDH1_000004 - - - - Germline yes - - - - DNA ? - - retinal disease P11 PubMed: Bennett-2020 - F - (United States) white/not hispanic - - - - 1 LOVD
+/. 9 c.931G>A r.(?) p.(Asp311Asn) Unknown - pathogenic g.128038611C>T - c.931G>A(p.Asp311Asn) - IMPDH1_000004 - - - - Germline yes - - - - DNA ? - - retinal disease P12 PubMed: Bennett-2020 - F - (United States) white/not hispanic - - - - 1 LOVD
+/. - c.931G>A r.(?) p.(Asp311Asn) Unknown ACMG pathogenic g.128038611C>T - - - IMPDH1_000004 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-862338 rs121912550 Germline yes - - - - DNA SEQ-NG-I BUCCAL SWAB - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 2479467 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+/. - c.931G>A r.(?) p.(Asp311Asn) Unknown ACMG pathogenic (dominant) g.128038611C>T g.128398557C>T - - IMPDH1_000004 ACMG PP3, PM2, PM1_SUPPORTING, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ADRP-457 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
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