Full data view for gene TRPM1

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

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

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Methylation     

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Technique     

Tissue     

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Disease     

ID_report     

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Data_av     

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Owner     
?/. - c.215A>G r.(?) p.(Tyr72Cys) Unknown - VUS g.31360294T>C - TRPM1(NM_001252020.1):c.332A>G (p.Y111C) - TRPM1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215A>G r.(?) p.(Tyr72Cys) Unknown - VUS g.31360294T>C g.31068091T>C - - TRPM1_000134 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD20–03 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+?/. - c.215A>G r.(?) p.(Tyr72Cys) Parent #2 - likely pathogenic g.31360294T>C g.31068091T>C - - TRPM1_000134 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 481 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.215A>G r.(?) p.(Tyr72Cys) Parent #1 - likely pathogenic g.31360294T>C g.31068091T>C - - TRPM1_000134 no genotype reported PubMed: Zeitz 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - Belgium - - - - - 1 LOVD
+?/. - c.215A>G r.(?) p.(Tyr72Cys) Both (homozygous) ACMG likely pathogenic g.31360294T>C g.31068091T>C GRK1 c.1384C>T, p.(Gln462*), c.1384C>T, p.(Gln462*), TRPM1 c.215A>G, p.(Tyr72Cys), c.215A>G, p.(Tyr72Cys) - TRPM1_000134 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 138 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.215A>G r.(?) p.(Tyr72Cys) Unknown ACMG likely pathogenic g.31360294T>C g.31068091T>C PRPF31 c.1336T>C, p.(Ser446Pro), TRPM1 c.215A>G, p.(Tyr72Cys) - TRPM1_000134 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 441 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 4 c.215A>G r.(?) p.(Tyr72Cys) Paternal (inferred) - likely pathogenic g.31360294T>C g.31068091T>C TRPM1 c.215A>G, p.Tyr72Cys - TRPM1_000134 heterozygous PubMed: Audo 2009 - - Germline yes 0/210 control alleles - - - DNA SEQ blood - retinal disease family 4, patient CIC00612 PubMed: Audo 2009 family 4, proband (families not named, consacutive numbers given) - - France French - - - - 1 LOVD
+?/. 4 c.215A>G r.(?) p.(Tyr72Cys) Paternal (confirmed) - likely pathogenic g.31360294T>C g.31068091T>C TRPM1 c.215A>G, p.Tyr72Cys - TRPM1_000134 heterozygous PubMed: Audo 2009 - - Germline yes 0/210 control alleles - - - DNA SEQ blood - retinal disease family 5, patient 23625, II-3 PubMed: Audo 2009 family 5, proband (families not named, consacutive numbers given) - - Switzerland Italian - - - - 1 LOVD
+?/. - c.215A>G r.spl p.(Tyr72Cys) Both (homozygous) - likely pathogenic g.31360294T>C g.31068091T>C TRPM1 c.215A>G, p.Y72C - TRPM1_000134 homozygous PubMed: Utz 2018 - - Unknown ? 0/192 control chromosomes - - - DNA ? - retrospective medical record review retinal disease Patient 3 PubMed: Utz 2018 - ? - - - - - - - 1 LOVD
+?/. - c.215A>G r.spl p.(Tyr72Cys) Both (homozygous) - likely pathogenic g.31360294T>C g.31068091T>C TRPM1 c.215A>G, p.Y72C - TRPM1_000134 homozygous PubMed: Utz 2018 - - Unknown ? 0/192 control chromosomes - - - DNA ? - retrospective medical record review retinal disease Patient 4 PubMed: Utz 2018 - ? - - - - - - - 1 LOVD
+?/. 4 c.215A>G r.(?) p.(Tyr72Cys) Maternal (confirmed) ACMG likely pathogenic g.31360294T>C g.31068091T>C 31362298T>C - TRPM1_000134 - - - - Germline yes - - - - DNA SEQ-NG - - CSNB - - 3-generation family, affected mother and elder sibling F no India Asian >13y - yes none 2 Srilekha Sundar
+/. - c.215A>G r.(?) p.(Tyr72Cys) Unknown ACMG pathogenic g.31360294T>C g.31068091T>C TRPM1 c.215A>G, p.(Tyr72Cys) - TRPM1_000134 different transcript, NM_002420.4(TRPM1):c.215A>G is NM_001252024.1:c.281A>G, p.(Tyr94Cys); compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 23_26 PubMed: Zhu 2022 family 23, individual 26 F - - - - - - - 1 LOVD
+/. - c.215A>G r.(?) p.(Tyr72Cys) Unknown ACMG pathogenic g.31360294T>C g.31068091T>C TRPM1 c.215A>G, p.(Tyr72Cys) - TRPM1_000134 different transcript, NM_002420.4(TRPM1):c.215A>G is NM_001252024.1:c.281A>G, p.(Tyr94Cys); compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 26_29 PubMed: Zhu 2022 family 26, individual 29 F - - - - - - - 1 LOVD
+/. - c.215A>G r.(?) p.(Tyr72Cys) Unknown ACMG pathogenic g.31360294T>C g.31068091T>C TRPM1 c.215A>G, p.(Tyr72Cys) - TRPM1_000134 different transcript, NM_002420.4(TRPM1):c.215A>G is NM_001252024.1:c.281A>G, p.(Tyr94Cys); compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 26_30 PubMed: Zhu 2022 family 26, individual 30 M - - - - - - - 1 LOVD
+?/. - c.215A>G r.(?) p.(Tyr72Cys) Unknown - likely pathogenic g.31360294T>C - TRPM1(NM_001252020.1):c.332A>G (p.Y111C) - TRPM1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.215A>G r.(?) p.(Tyr72Cys) Maternal (confirmed) ACMG likely pathogenic (recessive) g.31360294T>C g.31068091T>C - - TRPM1_000134 ACMG PP3, PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CSNB-153 PubMed: Weisschuh 2024 patient F - Germany - - - - - 1 Johan den Dunnen
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