All transcript variants in gene DBH

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

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

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     
+/. - c.339+2T>C pathogenic r.spl? p.? g.136501834T>C - DBH:NM_000787.3:c.339+2T>C (?) - DBH_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.354C>T likely benign r.(=) p.(=) g.136504982C>T - DBH:c.354C>T (D118=) - DBH_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.486A>G benign r.(=) p.(=) g.136505114A>G - DBH:c.486A>G (=) - DBH_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.486A>G benign - - g.136505114A>G - DBH:NM_000787.3:c.486A>G (=) - DBH_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.486+13C>T benign r.(=) p.(=) g.136505127C>T - DBH:NM_000787.3:c.486+13C>T (?) - DBH_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.744+8C>T likely benign r.(=) p.(=) g.136507594C>T - DBH:NM_000787.3:c.744+8C>T (=?) - DBH_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.952G>T benign r.(?) p.(Ala318Ser) g.136509370G>T - DBH:NM_000787.3:c.952G>T (Ala318Ser) - DBH_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1024+6C>G benign r.(=) p.(=) g.136509448C>G - DBH:NM_000787.3:c.1024+6C>G (?) - DBH_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1024+9C>T benign r.(=) p.(=) g.136509451C>T - DBH:NM_000787.3:c.1024+9C>T (?) - DBH_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1033G>A pathogenic r.(?) p.(Asp345Asn) g.136512976G>A - DBH:NM_000787.3:c.1033G>A (Asp345Asn) - DBH_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1410A>G benign r.(=) p.(=) g.136518097A>G - DBH:NM_000787.3:c.1410A>G (=) - DBH_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1563-5A>G likely benign r.spl? p.? g.136522187A>G - DBH:NM_000787.3:c.1563-5A>G (=?) - DBH_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.*100C>T likely benign r.(=) p.(=) g.136523669C>T - DBH:NM_000787.3:c.*100C>T (?) - DBH_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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