ClinVar

NM_004208.4(AIFM1):c.434C>T (p.Ala145Val)

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: 130147792 (on Assembly GRCh38)
• ChrX: 129281767 (on Assembly GRCh37)

Preferred name:

NM_004208.4(AIFM1):c.434C>T (p.Ala145Val)

HGVS:

• NC_000023.11:g.130147792G>A
• NG_013217.1:g.23042C>T
• NM_001130847.4:c.434C>T
• NM_004208.4:c.434C>TMANE SELECT
• NM_145812.3:c.422C>T
• NP_001124319.1:p.Ala145Val
• NP_004199.1:p.Ala145Val
• NP_665811.1:p.Ala141Val
• NC_000023.10:g.129281767G>A
• NM_004208.3:c.434C>T
• NR_132647.2:n.476C>T

This HGVS expression did not pass validation

Protein change:

A141V

Links:

dbSNP: rs724160015

NCBI 1000 Genomes Browser:

rs724160015

Molecular consequence:

• NM_001130847.4:c.434C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004208.4:c.434C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145812.3:c.422C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_132647.2:n.476C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2