ClinVar

NM_000018.4(ACADVL):c.1922T>C (p.Leu641Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7225051 (on Assembly GRCh38)
• Chr17: 7128370 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1922T>C (p.Leu641Ser)

HGVS:

• NC_000017.11:g.7225051T>C
• NG_007975.1:g.10218T>C
• NG_033038.1:g.14494A>G
• NM_000018.4:c.1922T>CMANE SELECT
• NM_001033859.3:c.1856T>C
• NM_001270447.2:c.1991T>C
• NM_001270448.2:c.1694T>C
• NP_000009.1:p.Leu641Ser
• NP_001029031.1:p.Leu619Ser
• NP_001257376.1:p.Leu664Ser
• NP_001257377.1:p.Leu565Ser
• NC_000017.10:g.7128370T>C

This HGVS expression did not pass validation

Protein change:

L565S

Links:

dbSNP: rs2071413884

NCBI 1000 Genomes Browser:

rs2071413884

Molecular consequence:

• NM_000018.4:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.3:c.1856T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.2:c.1991T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.2:c.1694T>C - missense variant - [Sequence Ontology: SO:0001583]