All transcript variants in gene ADRA2B

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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.476G>T r.(?) p.(Arg159Leu) - 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 - - - - - VKGL-NL_Leiden
+?/. - c.664C>T r.(?) p.(Arg222*) - likely pathogenic g.96781225G>A g.96115486G>A - - ADRA2B_000006 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs786205528 Germline - 2/2786 individuals - 0 - Mohammed Faruq
+/? - c.675_686delinsGTTTGGCAG r.(?) p.(His225_Leu229delinsGlnPheGlyArg) - 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 - - 0 - Johan den Dunnen
+/? - c.675_686delinsGTTTGGCAG r.(?) p.(His225_Leu229delinsGlnPheGlyArg) - 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 - - 0 - Johan den Dunnen
?/. - c.675_686delinsGTTTGGCAG r.(?) p.(His225_Leu229delinsGlnPheGlyArg) - VUS g.96781203_96781214delinsCTGCCAAAC g.96115464_96115475delinsCTGCCAAAC 675_686delTGGTGGGGCTTTinsGTTTGGCAG - ADRA2B_000005 variant initially linked to ADCME phenotype PubMed: Corbett 2019 - - SUMMARY record - - - 0 - Johan den Dunnen
-/. - c.890_910= r.(=) p.(Ala297=) - benign g.96780989_96780997dup - ADRA2B(NM_000682.6):c.899_907dupAGAGGAGGA (p.E307_E309dup) - ADRA2B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1182A>C r.(?) p.(Gly394=) - benign g.96780716T>G - ADRA2B(NM_000682.6):c.1182A>C (p.G394=) - ADRA2B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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