ClinVar

NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7224663 (on Assembly GRCh38)
• Chr17: 7127982 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)

HGVS:

• NC_000017.11:g.7224663G>A
• NG_007975.1:g.9830G>A
• NG_008391.2:g.388C>T
• NG_033038.1:g.14882C>T
• NM_000018.4:c.1700G>AMANE SELECT
• NM_001033859.2:c.1634G>A
• NM_001270447.1:c.1769G>A
• NM_001270448.1:c.1472G>A
• NP_000009.1:p.Arg567Gln
• NP_000009.1:p.Arg567Gln
• NP_001029031.1:p.Arg545Gln
• NP_001257376.1:p.Arg590Gln
• NP_001257377.1:p.Arg491Gln
• NC_000017.10:g.7127982G>A
• NM_000018.3:c.1700G>A

This HGVS expression did not pass validation

Protein change:

R491Q

Links:

dbSNP: rs398123084

NCBI 1000 Genomes Browser:

rs398123084

Molecular consequence:

• NM_000018.4:c.1700G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.2:c.1634G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.1:c.1769G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.1:c.1472G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

4