Home > Gene Browser > ISCA1

ISCA1

Synonyms
HBLD2, ISA1, MMDS5, hIscA
External resources
Summary
ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
548
Likely benign
582
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ISCA1 gene.

Phenotype class
Patients in 3billion (%)

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