ClinVar

NM_001243279.3(ACSF3):c.1704G>T (p.Ala568=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89154180 (on Assembly GRCh38)
• Chr16: 89220588 (on Assembly GRCh37)

Preferred name:

NM_001243279.3(ACSF3):c.1704G>T (p.Ala568=)

HGVS:

• NC_000016.10:g.89154180G>T
• NG_031961.1:g.65372G>T
• NM_001127214.4:c.1704G>T
• NM_001243279.3:c.1704G>TMANE SELECT
• NM_001284316.2:c.909G>T
• NM_174917.5:c.1704G>T
• NP_001120686.1:p.Ala568=
• NP_001230208.1:p.Ala568=
• NP_001271245.1:p.Ala303=
• NP_777577.2:p.Ala568=
• NC_000016.9:g.89220588G>T
• NR_023316.2:n.1222G>T
• NR_045667.2:n.830G>T
• NR_104293.2:n.2095G>T
• NR_147928.2:n.2139G>T
• NR_147929.2:n.1893G>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_045667.2:n.830G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104293.2:n.2095G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_147928.2:n.2139G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_147929.2:n.1893G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001127214.4:c.1704G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243279.3:c.1704G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001284316.2:c.909G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_174917.5:c.1704G>T - synonymous variant - [Sequence Ontology: SO:0001819]