ClinVar

NM_000018.4(ACADVL):c.531C>T (p.Thr177=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7221591 (on Assembly GRCh38)
• Chr17: 7124910 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.531C>T (p.Thr177=)

HGVS:

• NC_000017.11:g.7221591C>T
• NG_007975.1:g.6758C>T
• NG_008391.2:g.3460G>A
• NM_000018.4:c.531C>TMANE SELECT
• NM_001033859.3:c.465C>T
• NM_001270447.2:c.600C>T
• NM_001270448.2:c.303C>T
• NP_000009.1:p.Thr177=
• NP_001029031.1:p.Thr155=
• NP_001257376.1:p.Thr200=
• NP_001257377.1:p.Thr101=
• NC_000017.10:g.7124910C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2071228805

NCBI 1000 Genomes Browser:

rs2071228805

Molecular consequence:

• NM_000018.4:c.531C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001033859.3:c.465C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270447.2:c.600C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270448.2:c.303C>T - synonymous variant - [Sequence Ontology: SO:0001819]