ClinVar

NM_022786.3(ARV1):c.528C>T (p.Phe176=)

Gene:

ARV1:ARV1 homolog, fatty acid homeostasis modulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.2

Genomic location:

• Chr1: 230995839 (on Assembly GRCh38)
• Chr1: 231131585 (on Assembly GRCh37)

Preferred name:

NM_022786.3(ARV1):c.528C>T (p.Phe176=)

HGVS:

• NC_000001.11:g.230995839C>T
• NG_052022.1:g.21791C>T
• NM_001346992.2:c.627C>T
• NM_022786.2:c.528C>T
• NM_022786.3:c.528C>TMANE SELECT
• NP_001333921.1:p.Phe209=
• NP_073623.1:p.Phe176=
• NC_000001.10:g.231131585C>T
• NM_022786.1:c.528C>T
• NR_144538.2:n.540C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs35606565

NCBI 1000 Genomes Browser:

rs35606565

Molecular consequence:

• NR_144538.2:n.540C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001346992.2:c.627C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022786.3:c.528C>T - synonymous variant - [Sequence Ontology: SO:0001819]