Full data view for gene ADRA2B

Information The variants shown are described using the NM_000682.5 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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.442C>T r.(?) p.(Leu148Phe) Unknown - VUS g.96781447G>A - ADRA2B(NM_000682.5):c.442C>T (p.(Leu148Phe)) - ADRA2B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.476G>T r.(?) p.(Arg159Leu) Unknown - likely benign g.96781413C>A g.96115674C>A ADRA2B(NM_000682.5):c.476G>T (p.(Arg159Leu)) - ADRA2B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.664C>T r.(?) p.(Arg222*) Parent #1 - likely pathogenic g.96781225G>A g.96115486G>A - - ADRA2B_000006 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786205528 Germline - 2/2786 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/. - c.664C>T r.(?) p.(Arg222*) Both (homozygous) ACMG likely pathogenic g.96781225G>A g.96115486G>A - - ADRA2B_000006 ACMG PVS1, PM2 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - 758-gene panel ID 10DG0351 PubMed: Anazi 2017 simplex case F no Saudi Arabia - - - - - 1 Johan den Dunnen
+/? - c.675_686delinsGTTTGGCAG r.(?) p.(His225_Leu229delinsGlnPheGlyArg) Parent #1 - pathogenic (dominant) g.96781203_96781214delinsCTGCCAAAC g.96115464_96115475delinsCTGCCAAAC 675_686delTGGTGGGGCTTTinsGTTTGGCAG - ADRA2B_000005 pathogenicity variant questioned by Corbett 2019 PubMed: De Fusco 2014, PubMed: Corbett 2019 - - Germline yes - - - - DNA SEQ - - FAME FamA/Fam4 PubMed: De Fusco 2014, PubMed: Corbett 2019 5-generation family, 11 affected (6F, 5M) F;M - Italy - - - - - 11 Johan den Dunnen
+/? - c.675_686delinsGTTTGGCAG r.(?) p.(His225_Leu229delinsGlnPheGlyArg) Parent #1 - pathogenic (dominant) g.96781203_96781214delinsCTGCCAAAC g.96115464_96115475delinsCTGCCAAAC 675_686delTGGTGGGGCTTTinsGTTTGGCAG - ADRA2B_000005 pathogenicity variant questioned by Corbett 2019 PubMed: De Fusco 2014, PubMed: Corbett 2019 - - Germline yes - - - - DNA SEQ - - FAME FamB/Fam15 PubMed: De Fusco 2014, PubMed: Corbett 2019 4-generation family, 5 affected (3F, 2M) F;M no Italy - - - - - 4 Johan den Dunnen
?/. - c.675_686delinsGTTTGGCAG r.(?) p.(His225_Leu229delinsGlnPheGlyArg) Parent #1 - VUS g.96781203_96781214delinsCTGCCAAAC g.96115464_96115475delinsCTGCCAAAC 675_686delTGGTGGGGCTTTinsGTTTGGCAG - ADRA2B_000005 variant initially linked to ADCME phenotype PubMed: Corbett 2019 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.890_910= r.(=) p.(Ala297=) Unknown - benign g.96780989_96780997dup - ADRA2B(NM_000682.7):c.899_907dupAGAGGAGGA (p.E307_E309dup) - ADRA2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.982C>T r.(?) p.(Gln328*) Unknown - likely benign g.96780907G>A - ADRA2B(NM_000682.5):c.991C>T (p.(Arg331Trp)) - ADRA2B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1135G>A r.(?) p.(Val379Ile) Unknown - likely benign g.96780763C>T - ADRA2B(NM_000682.7):c.1126G>A (p.(Val376Ile)), ADRA2B(NM_000682.7):c.1135G>A (p.V379I) - ADRA2B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1135G>A r.(?) p.(Val379Ile) Unknown - likely benign g.96780763C>T - ADRA2B(NM_000682.7):c.1126G>A (p.(Val376Ile)), ADRA2B(NM_000682.7):c.1135G>A (p.V379I) - ADRA2B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1182A>C r.(?) p.(Gly394=) Unknown - benign g.96780716T>G - ADRA2B(NM_000682.7):c.1182A>C (p.G394=) - ADRA2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1292G>A r.(?) p.(Arg431His) Unknown - VUS g.96780597C>T - ADRA2B(NM_000682.7):c.1301G>A (p.(Arg434His)) - ADRA2B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.