ClinVar

NM_000018.3(ACADVL):c.-2209G>A

Genes:

ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7217776 (on Assembly GRCh38)
• Chr17: 7121095 (on Assembly GRCh37)

Preferred name:

NM_000018.3(ACADVL):c.-2209G>A

HGVS:

• NC_000017.11:g.7217776G>A
• NG_007975.1:g.2943G>A
• NG_008391.2:g.7275C>T
• NG_008391.3:g.7274C>T
• NM_001270447.2:c.89G>A
• NM_001321074.1:c.159+465C>T
• NM_001365.5:c.159+465C>T
• NP_001257376.1:p.Trp30Ter
• NC_000017.10:g.7121095G>A
• NM_000018.3:c.-2209G>A

This HGVS expression did not pass validation

Protein change:

W30*

Links:

dbSNP: rs1555526671

NCBI 1000 Genomes Browser:

rs1555526671

Molecular consequence:

• NM_001321074.1:c.159+465C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365.5:c.159+465C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001270447.2:c.89G>A - nonsense - [Sequence Ontology: SO:0001587]