Unique variants in gene DBH

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

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.275G>A VUS r.(?) p.(Arg92His) g.136501768G>A - DBH(NM_000787.3):c.275G>A (p.R92H) - DBH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +?/. 2 - c.339+2T>C pathogenic, likely pathogenic r.spl? p.? g.136501834T>C - DBH(NM_000787.3):c.339+2T>C (p.?) - DBH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-?/. 1 - c.354C>T likely benign r.(?) p.(=) g.136504982C>T - DBH(NM_000787.3):c.354C>T (p.D118=) - DBH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.486A>G benign r.(?) p.(=) g.136505114A>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 benign r.(=) p.(=) g.136505127C>T - DBH(NM_000787.3):c.486+13C>T (p.?) - DBH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.553G>A likely benign r.(?) p.(Gly185Ser) g.136507395G>A - DBH(NM_000787.3):c.553G>A (p.G185S) - DBH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.744+8C>T likely benign r.(=) p.(=) g.136507594C>T - DBH(NM_000787.3):c.744+8C>T (p.=?) - DBH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Leiden
-/. 1 - c.952G>T benign r.(?) p.(Ala318Ser) g.136509370G>T - DBH(NM_000787.3):c.952G>T (p.Ala318Ser) - DBH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1024+6C>G benign r.(=) p.(=) g.136509448C>G - DBH(NM_000787.3):c.1024+6C>G (p.?) - DBH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1024+9C>T benign r.(=) p.(=) g.136509451C>T - DBH(NM_000787.3):c.1024+9C>T (p.?) - DBH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1033G>A pathogenic r.(?) p.(Asp345Asn) g.136512976G>A - DBH(NM_000787.3):c.1033G>A (p.Asp345Asn) - DBH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1410A>G benign r.(?) p.(=) g.136518097A>G - DBH(NM_000787.3):c.1410A>G (p.=) - DBH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1528G>A VUS r.(?) p.(Gly510Ser) g.136521738G>A - DBH(NM_000787.3):c.1528G>A (p.G510S) - DBH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1563-5A>G likely benign r.spl? p.? g.136522187A>G - DBH(NM_000787.3):c.1563-5A>G (p.=?) - DBH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1688T>C VUS r.(?) p.(Met563Thr) g.136522317T>C - DBH(NM_000787.3):c.1688T>C (p.(Met563Thr)) - DBH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*100C>T likely benign r.(=) p.(=) g.136523669C>T - DBH(NM_000787.3):c.*100C>T (p.?) - DBH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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