ClinVar

NM_000018.4(ACADVL):c.519C>T (p.Gly173=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7221579 (on Assembly GRCh38)
• Chr17: 7124898 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.519C>T (p.Gly173=)

HGVS:

• NC_000017.11:g.7221579C>T
• NG_007975.1:g.6746C>T
• NG_008391.2:g.3472G>A
• NM_000018.4:c.519C>TMANE SELECT
• NM_001033859.3:c.453C>T
• NM_001270447.2:c.588C>T
• NM_001270448.2:c.291C>T
• NP_000009.1:p.Gly173=
• NP_001029031.1:p.Gly151=
• NP_001257376.1:p.Gly196=
• NP_001257377.1:p.Gly97=
• NC_000017.10:g.7124898C>T
• NM_000018.2:c.519C>T
• NM_000018.3:c.519C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs757830946

NCBI 1000 Genomes Browser:

rs757830946

Molecular consequence:

• NM_000018.4:c.519C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001033859.3:c.453C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270447.2:c.588C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270448.2:c.291C>T - synonymous variant - [Sequence Ontology: SO:0001819]