All transcript variants in gene HPD

Information The variants shown are described using the NM_002150.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.97A>G benign r.(?) p.(Thr33Ala) g.122295335T>C - HPD(NM_002150.2):c.97A>G (p.T33A) - HPD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.505dup likely pathogenic r.(?) p.(Leu169Profs*4) g.122287610dup - HPD(NM_001171993.1):c.388dupC (p.L130Pfs*4) - HPD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.845G>A likely benign r.(?) p.(Arg282Lys) g.122281725C>T - HPD(NM_001171993.1):c.728G>A (p.(Arg243Lys)) - HPD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.881C>T VUS r.(?) p.(Thr294Met) g.122281689G>A - HPD(NM_001171993.1):c.764C>T (p.(Thr255Met)) - HPD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.955-4C>T likely benign r.spl? p.? g.122277958G>A - HPD(NM_001171993.1):c.838-4C>T (p.?) - HPD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1005C>G VUS r.(?) p.(Ile335Met) g.122277904G>C - HPD(NM_001171993.1):c.888C>G (p.I296M) - HPD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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