Unique variants in gene DBH

Information The variants shown are described using the NM_000787.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Reported     

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     
?/. 1 - c.263G>C r.(?) p.(Gly88Ala) - VUS g.136501756G>C g.133636634G>C - - DBH_000018 conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs3025380 Germline - 6/2792 individuals - - - Mohammed Faruq
?/. 1 - c.275G>A r.(?) p.(Arg92His) - VUS g.136501768G>A g.133636646G>A DBH(NM_000787.3):c.275G>A (p.R92H) - DBH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 - c.339+2T>C r.spl? p.? - pathogenic, likely pathogenic g.136501834T>C g.133636712T>C DBH(NM_000787.3):c.339+2T>C - DBH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-?/. 1 - c.354C>T r.(?) p.(Asp118=) - likely benign g.136504982C>T g.133639860C>T DBH(NM_000787.3):c.354C>T (p.D118=) - DBH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.486A>G r.(?) p.(Glu162=) - benign g.136505114A>G g.133639992A>G DBH(NM_000787.3):c.486A>G (p.E162=) - DBH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.486+13C>T r.(=) p.(=) - benign g.136505127C>T g.133640005C>T - - DBH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.553G>A r.(?) p.(Gly185Ser) - likely benign g.136507395G>A g.133642273G>A DBH(NM_000787.3):c.553G>A (p.G185S) - DBH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.735C>T r.(=) p.(=) - likely benign g.136507577C>T g.133642455C>T - - DBH_000019 1 homozygous; Clinindb (India), 180 heterozygous; Clinindb (India) Faruq 2020, submtted - rs5322 Germline - 1/2794 individuals, 180/2794 individuals - - - Mohammed Faruq
-?/. 1 - c.744+8C>T r.(=) p.(=) - likely benign g.136507594C>T g.133642472C>T - - DBH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.747C>T r.(=) p.(=) - likely benign g.136508537C>T g.133643415C>T - - DBH_000020 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs35465867 Germline - 1/2794 individuals - - - Mohammed Faruq
-?/. 1 - c.850G>A r.(?) p.(Asp284Asn) - likely benign g.136508640G>A g.133643518G>A - - DBH_000021 7 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs13306301 Germline - 7/2795 individuals - - - Mohammed Faruq
-/. 1 - c.952G>T r.(?) p.(Ala318Ser) - benign g.136509370G>T g.133644248G>T - - DBH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1024+6C>G r.(=) p.(=) - benign g.136509448C>G g.133644326C>G - - DBH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1024+9C>T r.(=) p.(=) - benign g.136509451C>T g.133644329C>T - - DBH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1033G>A r.(?) p.(Asp345Asn) - pathogenic g.136512976G>A g.133647854G>A - - DBH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1198C>T r.(?) p.(Pro400Ser) - VUS g.136516762C>T g.133651640C>T - - DBH_000022 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs200798319 Germline - 2/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.1357G>T r.(?) p.(Val453Phe) - likely benign g.136517389G>T g.133652267G>T DBH(NM_000787.3):c.1357G>T (p.V453F) - DBH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1410A>G r.(?) p.(Thr470=) - benign g.136518097A>G g.133652975A>G - - DBH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1528G>A r.(?) p.(Gly510Ser) - VUS g.136521738G>A g.133656616G>A DBH(NM_000787.3):c.1528G>A (p.G510S) - DBH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1563-5A>G r.spl? p.? - likely benign g.136522187A>G g.133657065A>G - - DBH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1688T>C r.(?) p.(Met563Thr) - VUS g.136522317T>C g.133657195T>C DBH(NM_000787.3):c.1688T>C (p.(Met563Thr)) - DBH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1813_1814del r.(?) p.(Ala605TrpfsTer59) - VUS g.136523528_136523529del g.133658406_133658407del DBH(NM_000787.3):c.1813_1814delGC (p.A605Wfs*59) - DBH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*100C>T r.(=) p.(=) - likely benign g.136523669C>T g.133658547C>T - - DBH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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