ClinVar

NM_000018.4(ACADVL):c.1078-10C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7223123 (on Assembly GRCh38)
• Chr17: 7126442 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1078-10C>T

HGVS:

• NC_000017.11:g.7223123C>T
• NG_007975.1:g.8290C>T
• NG_008391.2:g.1928G>A
• NM_000018.4:c.1078-10C>TMANE SELECT
• NM_001033859.3:c.1012-10C>T
• NM_001270447.2:c.1147-10C>T
• NM_001270448.2:c.850-10C>T
• NC_000017.10:g.7126442C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs748209172

NCBI 1000 Genomes Browser:

rs748209172

Molecular consequence:

• NM_000018.4:c.1078-10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001033859.3:c.1012-10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001270447.2:c.1147-10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001270448.2:c.850-10C>T - intron variant - [Sequence Ontology: SO:0001627]