ClinVar

NM_000018.4(ACADVL):c.*8C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7225105 (on Assembly GRCh38)
• Chr17: 7128424 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.*8C>T

HGVS:

• NC_000017.11:g.7225105C>T
• NG_007975.1:g.10272C>T
• NG_033038.1:g.14440G>A
• NM_000018.4:c.*8C>TMANE SELECT
• NM_001033859.3:c.*8C>T
• NM_001270447.2:c.*8C>T
• NM_001270448.2:c.*8C>T
• NC_000017.10:g.7128424C>T
• NM_000018.3:c.*8C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs370513576

NCBI 1000 Genomes Browser:

rs370513576

Molecular consequence:

• NM_000018.4:c.*8C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001033859.3:c.*8C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001270447.2:c.*8C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001270448.2:c.*8C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]