Full data view for gene DRD3

Information The variants shown are described using the NM_000796.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.-56012_*16364198del r.0? p.0? Unknown ACMG VUS g.97483365_113953480del g.97764521_114234636del chr3, g.97483365_113953480del, arr([GRCh37] 3q11.2q13.31(97483365_113953480)x1), heterozygous - IMPG2_000140 no gene indicated in publication! PubMed: Perea-Romero 2021 - - Unknown ? - - - - DNA ? - clinical exome sequencing retinal disease RP-3055 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
?/. - c.244G>A r.(?) p.(Val82Met) Unknown - VUS g.113890596C>T g.114171749C>T DRD3(NM_000796.3):c.244G>A (p.(Val82Met)) - DRD3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.444G>A r.(?) p.(Arg148=) Unknown - likely benign g.113866344C>T g.114147497C>T DRD3(NM_000796.5):c.444G>A (p.R148=) - DRD3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1077C>A r.(?) p.(His359Gln) Unknown - VUS g.113847689G>T g.114128842G>T DRD3(NM_000796.3):c.1077C>A (p.(His359Gln)) - DRD3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077C>T r.(?) p.(His359=) Unknown - benign g.113847689G>A g.114128842G>A DRD3(NM_000796.5):c.1077C>T (p.H359=) - DRD3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1104G>A r.(?) p.(Thr368=) Unknown - likely benign g.113847662C>T g.114128815C>T DRD3(NM_000796.5):c.1104G>A (p.T368=) - DRD3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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