All variants in the HPGD gene

Information The variants shown are described using the NM_000860.5 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

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     
-?/. - c.93+1_93+3dup r.spl? p.? - likely benign g.175443507_175443509dup g.174522356_174522358dup HPGD(NM_000860.5):c.93+1_93+3dup (p.?) - HPGD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.120del r.(?) p.(Ala41GlnfsTer31) - pathogenic g.175443193del g.174522042del HPGD(NM_000860.5):c.120delA (p.(Ala41GlnfsTer31)) - HPGD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.156G>A r.(?) p.(Gln52=) - benign g.175443156C>T g.174522005C>T HPGD(NM_000860.6):c.156G>A (p.Q52=) - HPGD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.156G>A r.(?) p.(Gln52=) - benign g.175443156C>T g.174522005C>T HPGD(NM_000860.6):c.156G>A (p.Q52=) - HPGD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.175_176del r.(?) p.(Leu59Valfs*8) - VUS g.175443136_175443137del - - - HPGD_000005 - PubMed: Walcott 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. - c.175_176del r.(?) p.(Leu59ValfsTer8) - pathogenic g.175443138_175443139del - HPGD(NM_000860.6):c.175_176del (p.(Leu59Valfs*8)) - HPGD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.191A>G r.(?) p.(Asp64Gly) - likely pathogenic g.175443121T>C - - - HPGD_000015 - - - - Unknown - - - - - MobiDetails
+/. - c.218-1G>T r.spl? p.? - pathogenic g.175439229C>A - - - HPGD_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.254T>C r.(?) p.(Leu85Pro) - VUS g.175439192A>G - HPGD(NM_000860.6):c.254T>C (p.(Leu85Pro)) - HPGD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.284A>G r.(?) p.(Asn95Ser) - VUS g.175439162T>C - HPGD(NM_000860.6):c.284A>G (p.(Asn95Ser)) - HPGD_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. - c.325-2A>T r.spl? p.? - likely pathogenic g.175429945T>A g.174508794T>A NM_000860.5(HPGD):c.325-2A>T r.spl p.? - HPGD_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
?/. - c.325-2A>T r.spl? p.? - VUS g.175429945T>A - HPGD(NM_000860.5):c.325-2A>T - HPGD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.418G>C r.(?) p.(Ala140Pro) - pathogenic g.175429850C>G g.174508699C>G - - HPGD_000012 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121434480 Germline - 3/2793 individuals - - - Mohammed Faruq
-/. - c.421+634G>A r.(=) p.(=) - benign g.175429213C>T g.174508062C>T HPGD(NM_000860.6):c.421+634G>A - HPGD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.454del r.(?) p.(Cys152Valfs*7) - likely pathogenic g.175416744del - HPGD(NM_000860.6):c.454del (p.(Cys152Valfs*7)) - HPGD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.581T>C r.(?) p.(Ile194Thr) - VUS g.175414383A>G - HPGD(NM_000860.6):c.581T>C (p.(Ile194Thr)) - HPGD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.634G>A r.(?) p.(Asp212Asn) - likely benign g.175414330C>T g.174493179C>T HPGD(NM_000860.5):c.634G>A (p.(Asp212Asn)) - HPGD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.680A>G r.(?) p.(Asn227Ser) - likely benign g.175413228T>C - HPGD(NM_000860.5):c.680A>G (p.(Asn227Ser)) - HPGD_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.721G>A r.(?) p.(Ala241Thr) - VUS g.175413187C>T - HPGD(NM_000860.6):c.721G>A (p.(Ala241Thr)) - HPGD_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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