ClinVar

NM_000018.4(ACADVL):c.1944C>T (p.Val648=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7225073 (on Assembly GRCh38)
• Chr17: 7128392 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1944C>T (p.Val648=)

HGVS:

• NC_000017.11:g.7225073C>T
• NG_007975.1:g.10240C>T
• NG_033038.1:g.14472G>A
• NM_000018.4:c.1944C>TMANE SELECT
• NM_001033859.3:c.1878C>T
• NM_001270447.2:c.2013C>T
• NM_001270448.2:c.1716C>T
• NP_000009.1:p.Val648=
• NP_001029031.1:p.Val626=
• NP_001257376.1:p.Val671=
• NP_001257377.1:p.Val572=
• NC_000017.10:g.7128392C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1171256173

NCBI 1000 Genomes Browser:

rs1171256173

Molecular consequence:

• NM_000018.4:c.1944C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001033859.3:c.1878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270447.2:c.2013C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270448.2:c.1716C>T - synonymous variant - [Sequence Ontology: SO:0001819]