ClinVar

NM_000018.4(ACADVL):c.1535G>A (p.Arg512Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7224323 (on Assembly GRCh38)
• Chr17: 7127642 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1535G>A (p.Arg512Gln)

HGVS:

• NC_000017.11:g.7224323G>A
• NG_007975.1:g.9490G>A
• NG_008391.2:g.728C>T
• NG_033038.1:g.15222C>T
• NM_000018.4:c.1535G>AMANE SELECT
• NM_001033859.3:c.1469G>A
• NM_001270447.2:c.1604G>A
• NM_001270448.2:c.1307G>A
• NP_000009.1:p.Arg512Gln
• NP_001029031.1:p.Arg490Gln
• NP_001257376.1:p.Arg535Gln
• NP_001257377.1:p.Arg436Gln
• NC_000017.10:g.7127642G>A
• NM_000018.3:c.1535G>A
• p.Arg512Gln

This HGVS expression did not pass validation

Protein change:

R436Q

Links:

dbSNP: rs1363658463

NCBI 1000 Genomes Browser:

rs1363658463

Molecular consequence:

• NM_000018.4:c.1535G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.3:c.1469G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.2:c.1604G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.2:c.1307G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1