ClinVar

NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)

Genes:

LOC125177393:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:89180375-89181574 [Gene]
ACSF3:acyl-CoA synthetase family member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89114442 (on Assembly GRCh38)
• Chr16: 89180850 (on Assembly GRCh37)

Preferred name:

NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)

HGVS:

• NC_000016.10:g.89114442G>A
• NG_031961.1:g.25634G>A
• NM_001127214.4:c.1081G>A
• NM_001243279.3:c.1081G>AMANE SELECT
• NM_001284316.2:c.286G>A
• NM_174917.5:c.1081G>A
• NP_001120686.1:p.Gly361Ser
• NP_001230208.1:p.Gly361Ser
• NP_001271245.1:p.Gly96Ser
• NP_777577.2:p.Gly361Ser
• NC_000016.9:g.89180850G>A
• NM_001127214.4:c.1081G>A
• NM_174917.3:c.1081G>A
• NM_174917.4:c.1081G>A
• NR_104293.2:n.1419G>A
• NR_147928.2:n.1419G>A

This HGVS expression did not pass validation

Protein change:

G361S

Links:

dbSNP: rs145285434

NCBI 1000 Genomes Browser:

rs145285434

Molecular consequence:

• NM_001127214.4:c.1081G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243279.3:c.1081G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001284316.2:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_174917.5:c.1081G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104293.2:n.1419G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_147928.2:n.1419G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2