Full data view for gene DRAM2

Information The variants shown are described using the NM_178454.4 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
Legend   How to query  

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.47T>C r.(?) p.(Val16Ala) Unknown - VUS g.111674130A>G g.111131508A>G - - DRAM2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.47T>C r.(?) p.(Val16Ala) Parent #1 - pathogenic (recessive) g.111131508A>G - - - DRAM2_000005 - PubMed: Birtel 2018 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease Pat119 PubMed: Birtel 2018 patient F - Germany - - 0 - - 1 -
+/. - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
+/. 5 c.284G>T r.(?) p.(Gly95Val) Parent #2 - pathogenic (recessive) g.111667419C>A - - - DRAM2_000007 - PubMed: Birtel 2018 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease Pat119 PubMed: Birtel 2018 patient F - Germany - - 0 - - 1 -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.499G>A r.(?) p.(Gly167Arg) Unknown - VUS g.111663156C>T g.111120534C>T - - DRAM2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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_178454.5):c.693+15T>C - DRAM2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.737T>C r.(?) p.(Leu246Pro) Unknown - VUS g.111660846A>G g.111118224A>G DRAM2(NM_178454.5):c.737T>C (p.L246P) - DRAM2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.737T>C r.(?) p.(Leu246Pro) Unknown - VUS g.111660846A>G g.111118224A>G DRAM2(NM_178454.5):c.737T>C (p.L246P) - DRAM2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend   How to query