ClinVar

NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)

Genes:

RAB33A:RAB33A, member RAS oncogene family [Gene - OMIM - HGNC]
AIFM1:apoptosis inducing factor mitochondria associated 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.1

Genomic location:

• ChrX: 130137123 (on Assembly GRCh38)
• ChrX: 129271098 (on Assembly GRCh37)

Preferred name:

NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)

Other names:

AIFM1, LEU344PHE (rs184474885)

HGVS:

• NC_000023.11:g.130137123G>A
• NG_013217.1:g.33711C>T
• NM_001130846.4:c.13C>T
• NM_001130847.4:c.*258C>T
• NM_004208.4:c.1030C>TMANE SELECT
• NM_145812.3:c.1018C>T
• NP_001124318.2:p.Leu5Phe
• NP_004199.1:p.Leu344Phe
• NP_665811.1:p.Leu340Phe
• NC_000023.10:g.129271098G>A
• NM_004208.3:c.1030C>T
• NR_132647.2:n.1275C>T
• O95831:p.Leu344Phe

This HGVS expression did not pass validation

Protein change:

L340F; LEU344PHE

Links:

UniProtKB: O95831#VAR_076212; OMIM: 300169.0004; dbSNP: rs184474885

NCBI 1000 Genomes Browser:

rs184474885

Molecular consequence:

• NM_001130847.4:c.*258C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001130846.4:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004208.4:c.1030C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145812.3:c.1018C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_132647.2:n.1275C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]