ClinVar

NM_001243279.3(ACSF3):c.953G>A (p.Arg318His)

Gene:

ACSF3:acyl-CoA synthetase family member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89112222 (on Assembly GRCh38)
• Chr16: 89178630 (on Assembly GRCh37)

Preferred name:

NM_001243279.3(ACSF3):c.953G>A (p.Arg318His)

HGVS:

• NC_000016.10:g.89112222G>A
• NG_031961.1:g.23414G>A
• NM_001127214.4:c.953G>A
• NM_001243279.3:c.953G>AMANE SELECT
• NM_001284316.2:c.158G>A
• NM_174917.5:c.953G>A
• NP_001120686.1:p.Arg318His
• NP_001230208.1:p.Arg318His
• NP_001271245.1:p.Arg53His
• NP_777577.2:p.Arg318His
• NC_000016.9:g.89178630G>A
• NR_104293.2:n.1291G>A
• NR_147928.2:n.1291G>A
• NR_147929.2:n.1291G>A

This HGVS expression did not pass validation

Protein change:

R318H

Links:

dbSNP: rs200352879

NCBI 1000 Genomes Browser:

rs200352879

Molecular consequence:

• NM_001127214.4:c.953G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243279.3:c.953G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001284316.2:c.158G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_174917.5:c.953G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104293.2:n.1291G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_147928.2:n.1291G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_147929.2:n.1291G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]