ClinVar

NM_145207.3(AFG2A):c.394C>T (p.Gln132Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q28.1

Genomic location:

• Chr4: 122929145 (on Assembly GRCh38)
• Chr4: 123850300 (on Assembly GRCh37)

Preferred name:

NM_145207.3(AFG2A):c.394C>T (p.Gln132Ter)

HGVS:

• NC_000004.12:g.122929145C>T
• NG_051570.1:g.11076C>T
• NM_001317799.2:c.391C>T
• NM_001345856.2:c.391C>T
• NM_145207.3:c.394C>TMANE SELECT
• NP_001304728.1:p.Gln131Ter
• NP_001332785.1:p.Gln131Ter
• NP_660208.2:p.Gln132Ter
• NC_000004.11:g.123850300C>T
• NM_145207.2:c.394C>T

This HGVS expression did not pass validation

Protein change:

Q131*

Links:

dbSNP: rs1220351376

NCBI 1000 Genomes Browser:

rs1220351376

Molecular consequence:

• NM_001317799.2:c.391C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001345856.2:c.391C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_145207.3:c.394C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

3