ClinVar

NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)

Gene:

ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7221613 (on Assembly GRCh38)
• Chr17: 7124932 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)

Other names:

p.G185S:GGT>AGT; NM_000018.4(ACADVL):c.553G>A

HGVS:

• NC_000017.11:g.7221613G>A
• NG_007975.1:g.6780G>A
• NG_008391.2:g.3438C>T
• NM_000018.4:c.553G>AMANE SELECT
• NM_001033859.3:c.487G>A
• NM_001270447.2:c.622G>A
• NM_001270448.2:c.325G>A
• NP_000009.1:p.Gly185Ser
• NP_001029031.1:p.Gly163Ser
• NP_001257376.1:p.Gly208Ser
• NP_001257377.1:p.Gly109Ser
• NP_001257377.1:p.Gly109Ser
• NC_000017.10:g.7124932G>A
• NM_000018.2:c.553G>A
• NM_000018.3:c.553G>A
• NM_000018.4:c.553G>A
• NM_001033859.1:c.487G>A
• NM_001270448.1:c.325G>A
• P49748:p.Gly185Ser

This HGVS expression did not pass validation

Protein change:

G109S

Links:

UniProtKB: P49748#VAR_000335; dbSNP: rs545215807

NCBI 1000 Genomes Browser:

rs545215807

Molecular consequence:

• NM_000018.4:c.553G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.3:c.487G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.2:c.622G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.2:c.325G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1