ClinVar

NM_000018.4(ACADVL):c.138+11G>T

Genes:

LOC130060113:ATAC-STARR-seq lymphoblastoid silent region 8088 [Gene]
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7220208 (on Assembly GRCh38)
• Chr17: 7123527 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.138+11G>T

HGVS:

• NC_000017.11:g.7220208G>T
• NG_007975.1:g.5375G>T
• NG_008391.3:g.4842C>A
• NG_135374.1:g.79G>T
• NM_000018.4:c.138+11G>TMANE SELECT
• NM_001033859.3:c.138+11G>T
• NM_001270447.2:c.207+11G>T
• NM_001270448.2:c.-91+11G>T
• NC_000017.10:g.7123527G>T
• NG_008391.2:g.4843C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000018.4:c.138+11G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001033859.3:c.138+11G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001270447.2:c.207+11G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001270448.2:c.-91+11G>T - intron variant - [Sequence Ontology: SO:0001627]