Unique variants in gene HPD

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

8 entries on 1 page. Showing entries 1 - 8.
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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.97= r.(=) p.(Ala33=) - benign g.122295335T>C g.121857429T>C HPD(NM_002150.3):c.97A>G (p.T33A) - HPD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.157G>A r.(?) p.(Gly53Ser) - VUS g.122295275C>T g.121857369C>T HPD(NM_001171993.1):c.40G>A (p.(Gly14Ser)) - HPD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.505dup r.(?) p.(Leu169ProfsTer4) - likely pathogenic g.122287610dup g.121849704dup HPD(NM_001171993.1):c.388dupC (p.L130Pfs*4) - HPD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.845G>A r.(?) p.(Arg282Lys) - likely benign g.122281725C>T g.121843819C>T HPD(NM_001171993.1):c.728G>A (p.(Arg243Lys)) - HPD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.881C>T r.(?) p.(Thr294Met) - VUS g.122281689G>A g.121843783G>A HPD(NM_001171993.1):c.764C>T (p.(Thr255Met)) - HPD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.955-4C>T r.spl? p.? - likely benign g.122277958G>A g.121840052G>A HPD(NM_001171993.1):c.838-4C>T (p.?) - HPD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.1005C>G r.(?) p.(Ile335Met) - likely benign, VUS g.122277904G>C g.121839998G>C HPD(NM_001171993.1):c.888C>G (p.I296M) - HPD_000001 38 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs137852868 Germline, CLASSIFICATION record - 38/2793 individuals - - - Mohammed Faruq, VKGL-NL_Utrecht
-?/. 2 - c.1018G>T r.(?) p.(Val340Leu) - likely benign g.122277891C>A g.121839985C>A - - HPD_000006 114 heterozygous; Clinindb (India), 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs36023382 Germline - 114/2795 individuals, 2/2795 individuals - - - Mohammed Faruq
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