ClinVar

NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7223161 (on Assembly GRCh38)
• Chr17: 7126480 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser)

HGVS:

• NC_000017.11:g.7223161T>C
• NG_007975.1:g.8328T>C
• NG_008391.2:g.1890A>G
• NM_000018.4:c.1106T>CMANE SELECT
• NM_001033859.3:c.1040T>C
• NM_001270447.2:c.1175T>C
• NM_001270448.2:c.878T>C
• NP_000009.1:p.Phe369Ser
• NP_000009.1:p.Phe369Ser
• NP_001029031.1:p.Phe347Ser
• NP_001257376.1:p.Phe392Ser
• NP_001257377.1:p.Phe293Ser
• NC_000017.10:g.7126480T>C
• NM_000018.3:c.1106T>C

This HGVS expression did not pass validation

Protein change:

F293S

Links:

dbSNP: rs398123080

NCBI 1000 Genomes Browser:

rs398123080

Molecular consequence:

• NM_000018.4:c.1106T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.3:c.1040T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.2:c.1175T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.2:c.878T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2