ClinVar

NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)

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: 130137134 (on Assembly GRCh38)
• ChrX: 129271109 (on Assembly GRCh37)

Preferred name:

NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)

HGVS:

• NC_000023.11:g.130137134A>G
• NG_013217.1:g.33700T>C
• NM_001130846.4:c.2T>C
• NM_001130847.4:c.*247T>C
• NM_004208.4:c.1019T>CMANE SELECT
• NM_145812.3:c.1007T>C
• NP_001124318.2:p.Met1Thr
• NP_004199.1:p.Met340Thr
• NP_665811.1:p.Met336Thr
• NC_000023.10:g.129271109A>G
• NM_004208.3:c.1019T>C
• NR_132647.2:n.1264T>C

This HGVS expression did not pass validation

Protein change:

M1T; MET340THR

Links:

OMIM: 300169.0015; dbSNP: rs1057518895

NCBI 1000 Genomes Browser:

rs1057518895

Molecular consequence:

• NM_001130847.4:c.*247T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001130846.4:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001130846.4:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004208.4:c.1019T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_145812.3:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_132647.2:n.1264T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1