ClinVar

NM_004208.4(AIFM1):c.497C>T (p.Pro166Leu)

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: 130147601 (on Assembly GRCh38)
• ChrX: 129281576 (on Assembly GRCh37)

Preferred name:

NM_004208.4(AIFM1):c.497C>T (p.Pro166Leu)

HGVS:

• NC_000023.11:g.130147601G>A
• NG_013217.1:g.23233C>T
• NM_001130847.4:c.497C>T
• NM_004208.3:c.497C>T
• NM_004208.4:c.497C>TMANE SELECT
• NM_145812.3:c.485C>T
• NP_001124319.1:p.Pro166Leu
• NP_004199.1:p.Pro166Leu
• NP_665811.1:p.Pro162Leu
• NP_665811.1:p.Pro162Leu
• NC_000023.10:g.129281576G>A
• NM_145812.2:c.485C>T
• NR_132647.2:n.539C>T

This HGVS expression did not pass validation

Protein change:

P162L

Links:

dbSNP: rs193920813

NCBI 1000 Genomes Browser:

rs193920813

Molecular consequence:

• NM_001130847.4:c.497C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004208.4:c.497C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145812.3:c.485C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_132647.2:n.539C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]