ClinVar

NM_004153.4(ORC1):c.2427G>A (p.Glu809=)

Gene:

ORC1:origin recognition complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

• Chr1: 52373340 (on Assembly GRCh38)
• Chr1: 52839012 (on Assembly GRCh37)

Preferred name:

NM_004153.4(ORC1):c.2427G>A (p.Glu809=)

HGVS:

• NC_000001.11:g.52373340C>T
• NG_028251.1:g.36132G>A
• NM_001190818.2:c.2427G>A
• NM_001190819.2:c.2412G>A
• NM_004153.4:c.2427G>AMANE SELECT
• NP_001177747.1:p.Glu809=
• NP_001177748.1:p.Glu804=
• NP_004144.2:p.Glu809=
• NC_000001.10:g.52839012C>T
• NM_004153.3:c.2427G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs77077945

NCBI 1000 Genomes Browser:

rs77077945

Molecular consequence:

• NM_001190818.2:c.2427G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001190819.2:c.2412G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004153.4:c.2427G>A - synonymous variant - [Sequence Ontology: SO:0001819]