ClinVar

NM_000018.4(ACADVL):c.1668G>A (p.Lys556=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7224542 (on Assembly GRCh38)
• Chr17: 7127861 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1668G>A (p.Lys556=)

HGVS:

• NC_000017.11:g.7224542G>A
• NG_007975.1:g.9709G>A
• NG_008391.2:g.509C>T
• NG_033038.1:g.15003C>T
• NM_000018.4:c.1668G>AMANE SELECT
• NM_001033859.3:c.1602G>A
• NM_001270447.2:c.1737G>A
• NM_001270448.2:c.1440G>A
• NP_000009.1:p.Lys556=
• NP_001029031.1:p.Lys534=
• NP_001257376.1:p.Lys579=
• NP_001257377.1:p.Lys480=
• NC_000017.10:g.7127861G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1295605212

NCBI 1000 Genomes Browser:

rs1295605212

Molecular consequence:

• NM_000018.4:c.1668G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001033859.3:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270447.2:c.1737G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270448.2:c.1440G>A - synonymous variant - [Sequence Ontology: SO:0001819]