ClinVar

NM_000018.4(ACADVL):c.1293T>C (p.Asp431=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7223836 (on Assembly GRCh38)
• Chr17: 7127155 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1293T>C (p.Asp431=)

HGVS:

• NC_000017.11:g.7223836T>C
• NG_007975.1:g.9003T>C
• NG_008391.2:g.1215A>G
• NG_033038.1:g.15709A>G
• NM_000018.4:c.1293T>CMANE SELECT
• NM_001033859.3:c.1227T>C
• NM_001270447.2:c.1362T>C
• NM_001270448.2:c.1065T>C
• NP_000009.1:p.Asp431=
• NP_001029031.1:p.Asp409=
• NP_001257376.1:p.Asp454=
• NP_001257377.1:p.Asp355=
• NC_000017.10:g.7127155T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs2142985083

NCBI 1000 Genomes Browser:

rs2142985083

Molecular consequence:

• NM_000018.4:c.1293T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001033859.3:c.1227T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270447.2:c.1362T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270448.2:c.1065T>C - synonymous variant - [Sequence Ontology: SO:0001819]