ClinVar

NM_000018.4(ACADVL):c.436G>C (p.Val146Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7221017 (on Assembly GRCh38)
• Chr17: 7124336 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.436G>C (p.Val146Leu)

HGVS:

• NC_000017.11:g.7221017G>C
• NG_007975.1:g.6184G>C
• NG_008391.2:g.4034C>G
• NM_000018.4:c.436G>CMANE SELECT
• NM_001033859.3:c.370G>C
• NM_001270447.2:c.505G>C
• NM_001270448.2:c.208G>C
• NP_000009.1:p.Val146Leu
• NP_000009.1:p.Val146Leu
• NP_001029031.1:p.Val124Leu
• NP_001257376.1:p.Val169Leu
• NP_001257377.1:p.Val70Leu
• NC_000017.10:g.7124336G>C
• NM_000018.3:c.436G>C

This HGVS expression did not pass validation

Protein change:

V124L

Links:

dbSNP: rs398123089

NCBI 1000 Genomes Browser:

rs398123089

Molecular consequence:

• NM_000018.4:c.436G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.3:c.370G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.2:c.505G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.2:c.208G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1