ClinVar

NM_022786.3(ARV1):c.2T>C (p.Met1Thr)

Genes:

ARV1:ARV1 homolog, fatty acid homeostasis modulator [Gene - OMIM - HGNC]
LOC129932761:ATAC-STARR-seq lymphoblastoid active region 2721 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.2

Genomic location:

• Chr1: 230979107 (on Assembly GRCh38)
• Chr1: 231114853 (on Assembly GRCh37)

Preferred name:

NM_022786.3(ARV1):c.2T>C (p.Met1Thr)

HGVS:

• NC_000001.11:g.230979107T>C
• NG_052022.1:g.5059T>C
• NM_001346992.2:c.2T>C
• NM_022786.3:c.2T>CMANE SELECT
• NP_001333921.1:p.Met1Thr
• NP_073623.1:p.Met1Thr
• NC_000001.10:g.231114853T>C
• NR_144538.2:n.14T>C

This HGVS expression did not pass validation

Protein change:

M1T

Links:

dbSNP: rs774445829

NCBI 1000 Genomes Browser:

rs774445829

Molecular consequence:

• NM_001346992.2:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_022786.3:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001346992.2:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_022786.3:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_144538.2:n.14T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]