ClinVar

NM_000018.4(ACADVL):c.62+13C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7220059 (on Assembly GRCh38)
• Chr17: 7123378 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.62+13C>T

HGVS:

• NC_000017.11:g.7220059C>T
• NG_007975.1:g.5226C>T
• NG_008391.2:g.4992G>A
• NG_008391.3:g.4991G>A
• NG_194534.1:g.98C>T
• NM_000018.4:c.62+13C>TMANE SELECT
• NM_001033859.3:c.62+13C>T
• NM_001270447.2:c.132-63C>T
• NM_001270448.2:c.-229C>T
• NC_000017.10:g.7123378C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001270448.2:c.-229C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000018.4:c.62+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001033859.3:c.62+13C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001270447.2:c.132-63C>T - intron variant - [Sequence Ontology: SO:0001627]