ClinVar

NM_001098.3(ACO2):c.2130T>A (p.Ala710=)

Genes:

POLR3H:RNA polymerase III subunit H [Gene - OMIM - HGNC]
ACO2:aconitase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.2

Genomic location:

• Chr22: 41527944 (on Assembly GRCh38)
• Chr22: 41923948 (on Assembly GRCh37)

Preferred name:

NM_001098.3(ACO2):c.2130T>A (p.Ala710=)

HGVS:

• NC_000022.11:g.41527944T>A
• NG_032143.1:g.63820T>A
• NM_001018050.4:c.*1339A>TMANE SELECT
• NM_001018052.4:c.*1339A>T
• NM_001098.3:c.2130T>AMANE SELECT
• NM_001282884.2:c.*1339A>T
• NM_001282885.2:c.*1339A>T
• NM_138338.5:c.*1339A>T
• NP_001089.1:p.Ala710=
• NC_000022.10:g.41923948T>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001018050.4:c.*1339A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001018052.4:c.*1339A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001282884.2:c.*1339A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001282885.2:c.*1339A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_138338.5:c.*1339A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001098.3:c.2130T>A - synonymous variant - [Sequence Ontology: SO:0001819]