ClinVar

NM_000018.4(ACADVL):c.1270-6C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7223807 (on Assembly GRCh38)
• Chr17: 7127126 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1270-6C>T

HGVS:

• NC_000017.11:g.7223807C>T
• NG_007975.1:g.8974C>T
• NG_008391.2:g.1244G>A
• NG_008391.3:g.1243G>A
• NG_033038.1:g.15738G>A
• NM_000018.4:c.1270-6C>TMANE SELECT
• NM_001033859.3:c.1204-6C>T
• NM_001270447.2:c.1339-6C>T
• NM_001270448.2:c.1042-6C>T
• NC_000017.10:g.7127126C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000018.4:c.1270-6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001033859.3:c.1204-6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001270447.2:c.1339-6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001270448.2:c.1042-6C>T - intron variant - [Sequence Ontology: SO:0001627]