Full data view for gene DRAM2

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

50 entries on 1 page. Showing entries 1 - 50.
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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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?/. 4 c.3G>A r.(?) p.(Met1?) Parent #1 ACMG VUS g.111674174C>T g.111131552C>T - - DRAM2_000026 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 079506 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 3 c.8_10del r.(?) p.(Trp3del) Both (homozygous) - pathogenic g.111674167_111674169del - c.8_10delGGT - DRAM2_000023 - PubMed: Kuniyoshi 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 3 PubMed: Kuniyoshi 2020 - F yes - Japanese - - - - 1 LOVD
-?/. - c.24C>T r.(?) p.(Leu8=) Unknown - likely benign g.111674153G>A - DRAM2(NM_001349881.2):c.24C>T (p.L8=) - CEPT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.47T>C r.(?) p.(Val16Ala) Unknown - VUS g.111674130A>G g.111131508A>G - - DRAM2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.47T>C r.(?) p.(Val16Ala) Parent #1 - pathogenic (recessive) g.111131508A>G - - - DRAM2_000005 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat119 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. 3 c.47T>C r.(?) p.(Val16Ala) Unknown - likely pathogenic g.111674130A>G g.111131508A>G DRAM2 c.47T>C c.284G>T, p.Val16Ala p.Gly95Val - DRAM2_000005 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 122 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+/. 3 c.64_66del r.(?) p.(Ala22del) Both (homozygous) - pathogenic g.111674111_111674113del - c.64_66delGCT - DRAM2_000022 - PubMed: El-Asrag_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease Family BL1 PubMed: El-Asrag_2015 - F - - Indian - - - - 1 LOVD
+/. 3 c.79T>C r.(?) p.(Tyr27His) Paternal (confirmed) - pathogenic g.111674098A>G - c.79T>C - DRAM2_000021 - PubMed: El-Asrag_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease Family GC17004 PubMed: El-Asrag_2015 - F - - - - - - - 1 LOVD
+?/. - c.98_99del r.(?) p.(Leu33ProfsTer12) Unknown ACMG likely pathogenic (recessive) g.111674079_111674080del g.111131457_111131458del - - DRAM2_000025 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1239 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. 3 c.131G>A r.(?) p.(Ser44Asn) Parent #1 - pathogenic g.111674046C>T - c.131G>A - DRAM2_000020 - PubMed: El-Asrag_2015 - - Germline ? - - - - DNA SEQ-NG, SEQ - - retinal disease Case 1325 PubMed: El-Asrag_2015 - F - - Eurpean - - - - 1 LOVD
+/. - c.140del r.(?) p.(Gly47Valfs*3) Parent #1 - pathogenic g.111668909del g.111126287del - - DRAM2_000006 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs746559651 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. 4 c.140del r.(?) p.(Gly47Valfs*3) Both (homozygous) - pathogenic g.111668908del - p.[(Gly47Valfs*3)];[(Gly47Valfs*3)] - DRAM2_000006 - PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease IV:10 (ES1) PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - M - United Kingdom (Great Britain) Pakistani - - - - 1 LOVD
+/. 4 c.140del r.(?) p.(Gly47Valfs*3) Both (homozygous) - pathogenic g.111668908del - p.[(Gly47Valfs*3)];[(Gly47Valfs*3)] - DRAM2_000006 - PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease IV:7 (ES1) PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - M - United Kingdom (Great Britain) Pakistani - - - - 1 LOVD
+/. 4 c.140del r.(?) p.(Gly47Valfs*3) Both (homozygous) - pathogenic g.111668908del - p.[(Gly47Valfs*3)];[(Gly47Valfs*3)] - DRAM2_000006 - PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease IV:9 (ES1) PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - F - United Kingdom (Great Britain) Pakistani - - - - 1 LOVD
+/. 4 c.140del r.(?) p.(Gly47Valfs*3) Both (homozygous) - pathogenic g.111668908del - p.[(Gly47Valfs*3)];[(Gly47Valfs*3)] - DRAM2_000006 - PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease IV:8 (ES1) PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - F - United Kingdom (Great Britain) Pakistani - - - - 1 LOVD
+/. 4 c.140del r.(?) p.(Gly47Valfs*3) Both (homozygous) - pathogenic g.111668908del - p.[(Gly47Valfs*3)];[(Gly47Valfs*3)] - DRAM2_000006 - PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease IV:11 (ES1) PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - F - United Kingdom (Great Britain) Pakistani - - - - 1 LOVD
+/. 4 c.140del r.(?) p.(Gly47Valfs*3) Both (homozygous) - pathogenic g.111668908del - p.[(Gly47Valfs*3)];[(Gly47Valfs*3)] - DRAM2_000006 - PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease IV:6 (ES1) PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - F - United Kingdom (Great Britain) Pakistani - - - - 1 LOVD
+/. 4 c.140del r.(?) p.(Gly47Valfs*3) Both (homozygous) - pathogenic g.111668908del - p.[(Gly47Valfs*3)];[(Gly47Valfs*3)] - DRAM2_000006 - PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease III:4 (ES1) PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - M - United Kingdom (Great Britain) Pakistani - - - - 1 LOVD
+/. 4 c.140del r.(?) p.(Gly47Valfs*3) Both (homozygous) - pathogenic g.111668908del - p.[(Gly47Valfs*3)];[(Gly47Valfs*3)] - DRAM2_000006 - PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease III:13 (ES1) PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - M - United Kingdom (Great Britain) Pakistani - - - - 1 LOVD
+/. 4 c.140del r.(?) p.(Gly47Valfs*3) Both (homozygous) - pathogenic g.111668908del - p.[(Gly47Valfs*3)];[(Gly47Valfs*3)] - DRAM2_000006 - PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease III:5 (ES1) PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - F - United Kingdom (Great Britain) Pakistani - - - - 1 LOVD
+/. 4 c.140del r.(?) p.(Gly47Valfs*3) Both (homozygous) - pathogenic g.111668908del - p.[(Gly47Valfs*3)];[(Gly47Valfs*3)] - DRAM2_000006 - PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease III:6 (ES1) PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - M - United Kingdom (Great Britain) Pakistani - - - - 1 LOVD
+/. 4 c.140del r.(?) p.(Gly47Valfs*3) Both (homozygous) - pathogenic g.111668908del - p.[(Gly47Valfs*3)];[(Gly47Valfs*3)] - DRAM2_000006 - PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease III:1 (ES1) PubMed: El-Asrag_2015;PubMed: Sergouniotis_2015 - M - United Kingdom (Great Britain) Pakistani - - - - 1 LOVD
+/. 5 c.140del r.(?) p.(Gly47ValfsTer3) Both (homozygous) ACMG pathogenic g.111668909del g.111126287del - - DRAM2_000006 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072746 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. 2 c.169G>C r.(?) p.(Gly57Arg) Both (homozygous) - likely pathogenic g.111668879C>G g.111126257C>G DRAM2 c.169G>C, p.Gly57Arg - DRAM2_000009 homozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 121 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+/. 4 c.169G>C r.(?) p.(Gly57Arg) Both (homozygous) - pathogenic g.111668879C>G - c.169G>C, p.(Gly57Arg) - DRAM2_000009 - PubMed: Sergouniotis_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - exome sequencing retinal disease PCI1 PubMed: Sergouniotis_2015 - F yes - - - - - - 1 LOVD
?/. 5 c.169G>C r.(?) p.(Gly57Arg) Both (homozygous) ACMG VUS g.111668879C>G g.111126257C>G - - DRAM2_000009 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 066780 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.199+3A>T r.spl? p.? Both (homozygous) ACMG VUS g.111668846T>A g.111126224T>A - - DRAM2_000024 ACMG PP3, PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1129 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. 5 c.217_225del r.(?) p.(Val73_Tyr75del) Maternal (confirmed) - pathogenic g.111667478_111667486del - c.217_225delGTTCGTTAT - DRAM2_000018 - PubMed: El-Asrag_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease Family GC17004 PubMed: El-Asrag_2015 - F - - - - - - - 1 LOVD
+/. 5 c.221G>A r.(?) p.(Arg74His) Both (homozygous) - pathogenic g.111667482C>T - c.221G>A - DRAM2_000019 - PubMed: Kuniyoshi 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 2 PubMed: Kuniyoshi 2020 - M - - Japanese - - - - 1 LOVD
+/. 5 c.284G>T r.(?) p.(Gly95Val) Parent #2 - pathogenic (recessive) g.111667419C>A - - - DRAM2_000007 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat119 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+?/. 5 c.284G>T r.(?) p.(Gly95Val) Unknown - likely pathogenic g.111667419C>A g.111124797C>A DRAM2 c.47T>C c.284G>T, p.Val16Ala p.Gly95Val - DRAM2_000007 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 122 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
?/. - c.322A>G r.(?) p.(Ile108Val) Unknown - VUS g.111667381T>C - DRAM2(NM_001349881.1):c.322A>G (p.I108V) - CEPT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347C>A r.(?) p.(Thr116Asn) Unknown ACMG VUS g.111663308G>T g.111120686G>T DRAM2:NM_178454 c.C347A, p.T116N - DRAM2_000008 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-605 PubMed: Rodriguez-Munoz 2020 family fRPN-235, proband F - Spain - - - - - 1 LOVD
+/. 6 c.362A>T r.(?) p.(His121Leu) Both (homozygous) - pathogenic g.111663293T>A - c.362A>T - DRAM2_000017 - PubMed: El-Asrag_2015 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease Family GC4728 PubMed: El-Asrag_2015 - M - - - - - - - 1 LOVD
?/. - c.437T>G r.(?) p.(Met146Arg) Unknown - VUS g.111663218A>C g.111120596A>C DRAM2(NM_178454.5):c.437T>G (p.M146R) - CEPT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.494G>A r.(?) p.(Trp165*) Parent #2 - pathogenic g.111663161C>T - c.494G>A - DRAM2_000016 - PubMed: El-Asrag_2015 - - Germline ? - - - - DNA SEQ-NG, SEQ - - retinal disease Case 1325 PubMed: El-Asrag_2015 - F - - Eurpean - - - - 1 LOVD
?/. - c.499G>A r.(?) p.(Gly167Arg) Unknown - VUS g.111663156C>T g.111120534C>T - - DRAM2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.518-1G>A r.spl? p.? Both (homozygous) - pathogenic g.111662582C>T - c.518-1G>A - DRAM2_000015 - PubMed: Abad-Morales_2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - WES retinal disease II-(Fi19/02) PubMed: Abad-Morales_2019 - - ? - - - - - - 1 LOVD
+/. 8 c.628_629insAG r.(?) p.(Ala210Glufs*16) Both (homozygous) - pathogenic g.111661491_111661492insCT - c.628_629insAG - DRAM2_000014 - PubMed: Abad-Morales_2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - WES retinal disease I-(Fi19/01) PubMed: Abad-Morales_2019 - - yes - - - - - - 1 LOVD
?/. - c.683G>A r.(?) p.(Arg228His) Unknown ACMG VUS g.111661437C>T g.111118815C>T DRAM2 c.683G>A(;)744del, V1: c.683G>A, (p.Arg228His) - DRAM2_000011 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F187 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
?/. - c.683G>A r.(?) p.(Arg228His) Unknown - VUS g.111661437C>T g.111118815C>T DRAM2 c.683G>A(;)744del; p.(Arg228His) - DRAM2_000011 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0.000112; GnomAD_All: 0.0000123 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F187 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. 8i c.693+2T>A r.spl? p.? Both (homozygous) - pathogenic g.111661425A>T - c.693+2T>A - DRAM2_000013 - PubMed: Abad-Morales_2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - WES retinal disease III-(Fi19/03) PubMed: Abad-Morales_2019 - - yes - - - - - - 1 LOVD
-/. - c.693+14A>G r.(=) p.(=) Unknown - benign g.111661413T>C g.111118791T>C - - CEPT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.693+15T>C r.(=) p.(=) Unknown - benign g.111661412A>G g.111118790A>G DRAM2(NM_178454.6):c.693+15T>C - DRAM2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.707_709dup r.(?) p.(Arg236_Val237insGly) Both (homozygous) - pathogenic g.111660874_111660876dup - c.707_709dup - DRAM2_000012 - PubMed: Kuniyoshi 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 1 PubMed: Kuniyoshi 2020 - F yes - Japanese - - - - 1 LOVD
?/. - c.737T>C r.(?) p.(Leu246Pro) Unknown - VUS g.111660846A>G g.111118224A>G DRAM2(NM_178454.6):c.737T>C (p.L246P) - DRAM2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.737T>C r.(?) p.(Leu246Pro) Unknown - VUS g.111660846A>G g.111118224A>G DRAM2(NM_178454.6):c.737T>C (p.L246P) - DRAM2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.737T>C r.(?) p.(Leu246Pro) Parent #2 ACMG VUS g.111660846A>G g.111118224A>G - - DRAM2_000001 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 079506 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.744del r.(?) p.(Asp248Glufs*47) Unknown ACMG likely pathogenic g.111660839del g.111118217del DRAM2 c.683G>A(;)744del, V2: c.744delC, (p.Asp248GlufsTer47) - DRAM2_000010 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F187 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.744delC r.(?) p.(Asp248GlufsTer47) Unknown - likely pathogenic g.111660839del g.111118217del DRAM2 c.683G>A(;)744del; p.(Asp248GlufsTer47) - DRAM2_000010 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.000659; GnomAD_exome_East: 0; GnomAD_All: 0 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F187 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
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