ClinVar

NM_001243279.3(ACSF3):c.1716C>T (p.His572=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89154192 (on Assembly GRCh38)
• Chr16: 89220600 (on Assembly GRCh37)

Preferred name:

NM_001243279.3(ACSF3):c.1716C>T (p.His572=)

HGVS:

• NC_000016.10:g.89154192C>T
• NG_031961.1:g.65384C>T
• NM_001127214.4:c.1716C>T
• NM_001243279.3:c.1716C>TMANE SELECT
• NM_001284316.2:c.921C>T
• NM_174917.5:c.1716C>T
• NP_001120686.1:p.His572=
• NP_001230208.1:p.His572=
• NP_001271245.1:p.His307=
• NP_777577.2:p.His572=
• NC_000016.9:g.89220600C>T
• NR_023316.2:n.1234C>T
• NR_045667.2:n.842C>T
• NR_104293.2:n.2107C>T
• NR_147928.2:n.2151C>T
• NR_147929.2:n.1905C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_045667.2:n.842C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104293.2:n.2107C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_147928.2:n.2151C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_147929.2:n.1905C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001127214.4:c.1716C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243279.3:c.1716C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001284316.2:c.921C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_174917.5:c.1716C>T - synonymous variant - [Sequence Ontology: SO:0001819]