ClinVar

NM_000018.4(ACADVL):c.1857C>T (p.Ala619=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7224986 (on Assembly GRCh38)
• Chr17: 7128305 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1857C>T (p.Ala619=)

HGVS:

• NC_000017.11:g.7224986C>T
• NG_007975.1:g.10153C>T
• NG_008391.2:g.65G>A
• NG_033038.1:g.14559G>A
• NM_000018.4:c.1857C>TMANE SELECT
• NM_001033859.3:c.1791C>T
• NM_001270447.2:c.1926C>T
• NM_001270448.2:c.1629C>T
• NP_000009.1:p.Ala619=
• NP_001029031.1:p.Ala597=
• NP_001257376.1:p.Ala642=
• NP_001257377.1:p.Ala543=
• NC_000017.10:g.7128305C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs375730795

NCBI 1000 Genomes Browser:

rs375730795

Molecular consequence:

• NM_000018.4:c.1857C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001033859.3:c.1791C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270447.2:c.1926C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270448.2:c.1629C>T - synonymous variant - [Sequence Ontology: SO:0001819]