ClinVar

NM_145207.3(AFG2A):c.1527C>T (p.Leu509=)

Gene:

AFG2A:AFG2 AAA ATPase homolog A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q28.1

Genomic location:

• Chr4: 122947301 (on Assembly GRCh38)
• Chr4: 123868456 (on Assembly GRCh37)

Preferred name:

NM_145207.3(AFG2A):c.1527C>T (p.Leu509=)

HGVS:

• NC_000004.12:g.122947301C>T
• NG_051570.1:g.29232C>T
• NM_001317799.2:c.1524C>T
• NM_001345856.2:c.1524C>T
• NM_145207.3:c.1527C>TMANE SELECT
• NP_001304728.1:p.Leu508=
• NP_001332785.1:p.Leu508=
• NP_660208.2:p.Leu509=
• NC_000004.11:g.123868456C>T
• NM_145207.2:c.1527C>T
• p.Leu509Leu

This HGVS expression did not pass validation

Links:

dbSNP: rs6534369

NCBI 1000 Genomes Browser:

rs6534369

Molecular consequence:

• NM_001317799.2:c.1524C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001345856.2:c.1524C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_145207.3:c.1527C>T - synonymous variant - [Sequence Ontology: SO:0001819]