ClinVar

NM_000018.4(ACADVL):c.1038G>A (p.Ala346=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7222826 (on Assembly GRCh38)
• Chr17: 7126145 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1038G>A (p.Ala346=)

Other names:

NM_000018.4(ACADVL):c.1038G>A; p.Ala346=

HGVS:

• NC_000017.11:g.7222826G>A
• NG_007975.1:g.7993G>A
• NG_008391.2:g.2225C>T
• NM_000018.4:c.1038G>AMANE SELECT
• NM_001033859.3:c.972G>A
• NM_001270447.2:c.1107G>A
• NM_001270448.2:c.810G>A
• NP_000009.1:p.Ala346=
• NP_001029031.1:p.Ala324=
• NP_001257376.1:p.Ala369=
• NP_001257377.1:p.Ala270=
• NP_001257377.1:p.Ala270=
• NC_000017.10:g.7126145G>A
• NM_000018.2:c.1038G>A
• NM_000018.3:c.1038G>A
• NM_001270448.1:c.810G>A
• NP_000009.1:p.(=)
• p.Ala270Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs8064573

NCBI 1000 Genomes Browser:

rs8064573

Molecular consequence:

• NM_000018.4:c.1038G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001033859.3:c.972G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270447.2:c.1107G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270448.2:c.810G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

6