ClinVar

NM_000018.4(ACADVL):c.605T>A (p.Leu202His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7221665 (on Assembly GRCh38)
• Chr17: 7124984 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.605T>A (p.Leu202His)

HGVS:

• NC_000017.11:g.7221665T>A
• NG_007975.1:g.6832T>A
• NG_008391.2:g.3386A>T
• NM_000018.4:c.605T>AMANE SELECT
• NM_001033859.3:c.539T>A
• NM_001270447.2:c.674T>A
• NM_001270448.2:c.377T>A
• NP_000009.1:p.Leu202His
• NP_000009.1:p.Leu202His
• NP_001029031.1:p.Leu180His
• NP_001257376.1:p.Leu225His
• NP_001257377.1:p.Leu126His
• NC_000017.10:g.7124984T>A
• NM_000018.3:c.605T>A

This HGVS expression did not pass validation

Protein change:

L126H

Links:

dbSNP: rs398123090

NCBI 1000 Genomes Browser:

rs398123090

Molecular consequence:

• NM_000018.4:c.605T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.3:c.539T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.2:c.674T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.2:c.377T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1