rs863224880

This is a stop gained variant in the IGHMBP2 gene.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters6 publications

Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S; Clonus; Failure to thrive; Hyperreflexia (HRX); Ptosis; Respiratory distress; Severe muscular hypotonia; Tachypnea

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About IGHMBP2

This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]

View all IGHMBP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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