ClinVar

NM_000018.4(ACADVL):c.1430G>A (p.Cys477Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7224065 (on Assembly GRCh38)
• Chr17: 7127384 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1430G>A (p.Cys477Tyr)

HGVS:

• NC_000017.11:g.7224065G>A
• NG_007975.1:g.9232G>A
• NG_008391.2:g.986C>T
• NG_033038.1:g.15480C>T
• NM_000018.4:c.1430G>AMANE SELECT
• NM_001033859.3:c.1364G>A
• NM_001270447.2:c.1499G>A
• NM_001270448.2:c.1202G>A
• NP_000009.1:p.Cys477Tyr
• NP_001029031.1:p.Cys455Tyr
• NP_001257376.1:p.Cys500Tyr
• NP_001257377.1:p.Cys401Tyr
• NC_000017.10:g.7127384G>A
• NM_000018.3:c.1430G>A

This HGVS expression did not pass validation

Protein change:

C401Y

Links:

dbSNP: rs1555528803

NCBI 1000 Genomes Browser:

rs1555528803

Molecular consequence:

• NM_000018.4:c.1430G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.3:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.2:c.1499G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.2:c.1202G>A - missense variant - [Sequence Ontology: SO:0001583]