ClinVar

NM_004153.4(ORC1):c.521C>T (p.Ala174Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

• Chr1: 52396246 (on Assembly GRCh38)
• Chr1: 52861918 (on Assembly GRCh37)

Preferred name:

NM_004153.4(ORC1):c.521C>T (p.Ala174Val)

HGVS:

• NC_000001.11:g.52396246G>A
• NG_028251.1:g.13226C>T
• NG_028251.2:g.18257C>T
• NM_001190818.2:c.521C>T
• NM_001190819.2:c.521C>T
• NM_004153.4:c.521C>TMANE SELECT
• NP_001177747.1:p.Ala174Val
• NP_001177748.1:p.Ala174Val
• NP_004144.2:p.Ala174Val
• NC_000001.10:g.52861918G>A
• NM_004153.3:c.521C>T

This HGVS expression did not pass validation

Protein change:

A174V

Links:

dbSNP: rs764553903

Molecular consequence:

• NM_001190818.2:c.521C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190819.2:c.521C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004153.4:c.521C>T - missense variant - [Sequence Ontology: SO:0001583]