ClinVar

NM_000018.4(ACADVL):c.663C>T (p.Ser221=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7221992 (on Assembly GRCh38)
• Chr17: 7125311 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.663C>T (p.Ser221=)

Other names:

NM_000018.4(ACADVL):c.663C>T; p.Ser221=

HGVS:

• NC_000017.11:g.7221992C>T
• NG_007975.1:g.7159C>T
• NG_008391.2:g.3059G>A
• NM_000018.4:c.663C>TMANE SELECT
• NM_001033859.3:c.597C>T
• NM_001270447.2:c.732C>T
• NM_001270448.2:c.435C>T
• NP_000009.1:p.Ser221=
• NP_001029031.1:p.Ser199=
• NP_001257376.1:p.Ser244=
• NP_001257377.1:p.Ser145=
• NC_000017.10:g.7125311C>T
• NM_000018.2:c.663C>T
• NM_000018.3:c.663C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs144255994

NCBI 1000 Genomes Browser:

rs144255994

Molecular consequence:

• NM_000018.4:c.663C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001033859.3:c.597C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270447.2:c.732C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270448.2:c.435C>T - synonymous variant - [Sequence Ontology: SO:0001819]