Full data view for gene DRAM2

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

13 entries on 1 page. Showing entries 1 - 13.
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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.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
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