All variants in the HMGCR gene

Information The variants shown are described using the NM_000859.2 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.365+4A>G r.[0,=] p.[0,=] - likely pathogenic (recessive) g.74640161A>G g.75344336A>G - - HMGCR_000009 RNA analysis shows 0.88 paternal variant Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.365+4A>G r.spl? p.? - likely pathogenic (recessive) g.74640161A>G g.75344336A>G - - HMGCR_000009 - Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.1327C>T r.(?) p.(Arg443Trp) - likely pathogenic (recessive) g.74647386C>T g.75351561C>T - - HMGCR_000008 - Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.1327C>T r.(?) p.(Arg443Trp) - likely pathogenic (recessive) g.74647386C>T - - - HMGCR_000008 - Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.1328G>A r.(?) p.(Arg443Gln) - likely pathogenic (recessive) g.74647387G>A - - - HMGCR_000004 - Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.1328G>A r.(?) p.(Arg443Gln) - likely pathogenic (recessive) g.74647387G>A g.75351562G>A - - HMGCR_000004 - Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.1328G>A r.(?) p.(Arg443Gln) - likely pathogenic (recessive) g.74647387C>A - - - HMGCR_000004 - Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.1401C>G r.(?) p.(Ile467Met) - likely pathogenic (recessive) g.74650360C>G g.75354535C>G - - HMGCR_000010 variant not detected in father, possible paternal uniparental disomy Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Unknown - - - - - Johan den Dunnen
+?/. - c.1522_1524del r.(?) p.(Ser508del) - likely pathogenic (recessive) g.74650481_74650483del g.75354656_75354658del - - HMGCR_000007 - Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.1522_1524del r.(?) p.(Ser508del) - likely pathogenic (recessive) g.74650481_74650483del - 1517_1519delTCT - HMGCR_000007 - Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.1544G>C r.(?) p.(Arg515Thr) - likely pathogenic (recessive) g.74650503G>C g.75354678G>C - - HMGCR_000011 - Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline - - - - - Johan den Dunnen
+?/. - c.1637T>C r.(?) p.(Leu546Ser) - likely pathogenic (recessive) g.74650954T>C g.75355129T>C - - HMGCR_000005 - Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline - - - - - Johan den Dunnen
+?/. - c.1867G>A r.(?) p.(Asp623Asn) - likely pathogenic (recessive) g.74651334G>A g.75355509G>A - - HMGCR_000003 - Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.1867G>A r.(?) p.(Asp623Asn) - likely pathogenic (recessive) g.74651334G>A g.75355509G>A - - HMGCR_000003 - Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.1867G>A r.(?) p.(Asp623Asn) - likely pathogenic (recessive) g.74651334G>A - - - HMGCR_000003 - Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.2375A>G r.(?) p.(Tyr792Cys) - likely pathogenic (recessive) g.74655299A>G g.75359474A>G - - HMGCR_000002 - Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline yes - - - - Johan den Dunnen
+?/. - c.2375A>G r.2375a>g p.Tyr792Cys - likely pathogenic (recessive) g.74655299A>G g.75359474A>G - - HMGCR_000002 RNA analysis shows 0.88 paternal variant Morales-Rosado ASHG2020, PubMed: Morales-Rosado 2023 - - Germline yes - - - - Johan den Dunnen
?/. - c.2457+117T>G r.(=) p.(=) - VUS g.74655498T>G g.75359673T>G - - HMGCR_000001 no interpretation available; 23 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17238540 Germline - 23/2795 individuals - - - Mohammed Faruq
+/. - c.2465G>A r.(?) p.(Gly822Asp) - pathogenic (recessive) g.74655817G>A g.75359992G>A - - HMGCR_000012 not in 210 ethnically matched controls; in vitro functional studies in SH-SY5Y cells showed variant protein had normal subcellular localization, but decreased activity - - - Germline yes - - - - Johan den Dunnen
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