ClinVar

NM_000018.4(ACADVL):c.1566C>T (p.Ser522=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7224354 (on Assembly GRCh38)
• Chr17: 7127673 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1566C>T (p.Ser522=)

HGVS:

• NC_000017.11:g.7224354C>T
• NG_007975.1:g.9521C>T
• NG_008391.2:g.697G>A
• NG_033038.1:g.15191G>A
• NM_000018.4:c.1566C>TMANE SELECT
• NM_001033859.3:c.1500C>T
• NM_001270447.2:c.1635C>T
• NM_001270448.2:c.1338C>T
• NP_000009.1:p.Ser522=
• NP_001029031.1:p.Ser500=
• NP_001257376.1:p.Ser545=
• NP_001257377.1:p.Ser446=
• NC_000017.10:g.7127673C>T
• NM_000018.2:c.1566C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs371654348

NCBI 1000 Genomes Browser:

rs371654348

Molecular consequence:

• NM_000018.4:c.1566C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001033859.3:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270447.2:c.1635C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270448.2:c.1338C>T - synonymous variant - [Sequence Ontology: SO:0001819]