ClinVar

NM_000018.4(ACADVL):c.879-7G>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7222660 (on Assembly GRCh38)
• Chr17: 7125979 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.879-7G>C

HGVS:

• NC_000017.11:g.7222660G>C
• NG_007975.1:g.7827G>C
• NG_008391.2:g.2391C>G
• NM_000018.4:c.879-7G>CMANE SELECT
• NM_001033859.3:c.813-7G>C
• NM_001270447.2:c.948-7G>C
• NM_001270448.2:c.651-7G>C
• NC_000017.10:g.7125979G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs2142979711

NCBI 1000 Genomes Browser:

rs2142979711

Molecular consequence:

• NM_000018.4:c.879-7G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001033859.3:c.813-7G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001270447.2:c.948-7G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001270448.2:c.651-7G>C - intron variant - [Sequence Ontology: SO:0001627]