Full data view for 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     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.97A>G benign r.(?) p.(Thr33Ala) Unknown g.122295335T>C - HPD(NM_002150.2):c.97A>G (p.T33A) - HPD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.505dup likely pathogenic r.(?) p.(Leu169Profs*4) Unknown g.122287610dup - HPD(NM_001171993.1):c.388dupC (p.L130Pfs*4) - HPD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.845G>A likely benign r.(?) p.(Arg282Lys) Unknown g.122281725C>T - HPD(NM_001171993.1):c.728G>A (p.(Arg243Lys)) - HPD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.881C>T VUS r.(?) p.(Thr294Met) Unknown g.122281689G>A - HPD(NM_001171993.1):c.764C>T (p.(Thr255Met)) - HPD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.955-4C>T likely benign r.spl? p.? Unknown g.122277958G>A - HPD(NM_001171993.1):c.838-4C>T (p.?) - HPD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1005C>G VUS r.(?) p.(Ile335Met) Unknown g.122277904G>C - HPD(NM_001171993.1):c.888C>G (p.I296M) - HPD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1005C>G - r.(?) p.(Ile335Met) Unknown g.122277904G>C g.121839998G>C - - HPD_000001 38 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs137852868 Germline - 38/2755 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 38 Mohammed Faruq
-?/. - c.1018G>T - r.(?) p.(Val340Leu) Unknown g.122277891C>A g.121839985C>A - - HPD_000006 114 heterozygous, 2 homozygous; Clinindb (India) Faruq 2020, submtted - rs36023382 Germline - 116/2679 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 116 Mohammed Faruq
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