ClinVar

NM_000018.4(ACADVL):c.1266C>T (p.Gly422=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7223727 (on Assembly GRCh38)
• Chr17: 7127046 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1266C>T (p.Gly422=)

HGVS:

• NC_000017.11:g.7223727C>T
• NG_007975.1:g.8894C>T
• NG_008391.2:g.1324G>A
• NG_008391.3:g.1323G>A
• NG_033038.1:g.15818G>A
• NM_000018.4:c.1266C>TMANE SELECT
• NM_001033859.3:c.1200C>T
• NM_001270447.2:c.1335C>T
• NM_001270448.2:c.1038C>T
• NP_000009.1:p.Gly422=
• NP_001029031.1:p.Gly400=
• NP_001257376.1:p.Gly445=
• NP_001257377.1:p.Gly346=
• NC_000017.10:g.7127046C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000018.4:c.1266C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001033859.3:c.1200C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270447.2:c.1335C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270448.2:c.1038C>T - synonymous variant - [Sequence Ontology: SO:0001819]