Full data view for gene HPD

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

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.43C>T r.(?) p.(Arg15Ter) Unknown - pathogenic g.122295713G>A - HPD(NM_002150.3):c.43C>T (p.R15*) - HPD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.97= r.(=) p.(Ala33=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.157G>A r.(?) p.(Gly53Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 7 c.398T>C r.(?) p.(Phe133Ser) Unknown - VUS g.122292625A>G g.121854719A>G - - HPD_000012 - PubMed: Ganapathy 2019 - rs545913399 Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-1643 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-?/. - c.415-4G>A r.spl? p.? Unknown - likely benign g.122287700C>T - HPD(NM_001171993.1):c.298-4G>A - HPD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.505dup r.(?) p.(Leu169ProfsTer4) Unknown - likely pathogenic g.122287610dup g.121849704dup HPD(NM_001171993.1):c.388dupC (p.L130Pfs*4) - HPD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.845G>A r.(?) p.(Arg282Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.881C>T r.(?) p.(Thr294Met) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.955-4C>T r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1005C>G r.(?) p.(Ile335Met) Unknown - VUS g.122277904G>C g.121839998G>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) Parent #1 - likely benign g.122277904G>C g.121839998G>C - - HPD_000001 38 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137852868 Germline - 38/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 38 Mohammed Faruq
+?/. 13 c.1005C>G r.(?) p.(Ile335Met) Unknown - likely pathogenic g.122277904G>C g.121839998G>C - - HPD_000001 - 0 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-1643 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-?/. - c.1018G>T r.(?) p.(Val340Leu) Parent #1 - likely benign g.122277891C>A g.121839985C>A - - HPD_000006 114 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs36023382 Germline - 114/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 114 Mohammed Faruq
-?/. - c.1018G>T r.(?) p.(Val340Leu) Both (homozygous) - likely benign g.122277891C>A g.121839985C>A - - HPD_000006 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs36023382 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
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