ClinVar

NM_000018.4(ACADVL):c.1482C>T (p.Pro494=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7224193 (on Assembly GRCh38)
• Chr17: 7127512 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1482C>T (p.Pro494=)

HGVS:

• NC_000017.11:g.7224193C>T
• NG_007975.1:g.9360C>T
• NG_008391.2:g.858G>A
• NG_033038.1:g.15352G>A
• NM_000018.4:c.1482C>TMANE SELECT
• NM_001033859.3:c.1416C>T
• NM_001270447.2:c.1551C>T
• NM_001270448.2:c.1254C>T
• NP_000009.1:p.Pro494=
• NP_001029031.1:p.Pro472=
• NP_001257376.1:p.Pro517=
• NP_001257377.1:p.Pro418=
• NC_000017.10:g.7127512C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2071364748

NCBI 1000 Genomes Browser:

rs2071364748

Molecular consequence:

• NM_000018.4:c.1482C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001033859.3:c.1416C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270447.2:c.1551C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270448.2:c.1254C>T - synonymous variant - [Sequence Ontology: SO:0001819]