SCNM1 Chromosome 1

Sodium channel modifier 1

2 variants 2 Health Risk

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What This Gene Does

SCNM1 is a zinc finger protein and putative splicing factor. In mice, Scnm1 modifies phenotypic expression of Scn8a (MIM 600702) mutations (Buchner et al., 2003 [PubMed 12920299]).[supplied by OMIM, Oct 2009]

Associated Conditions (1)

Orofaciodigital syndrome 19

Key Variants

RS2525218255

Pathogenic

Orofaciodigital syndrome 19, Orofaciodigital syndrome 19

Health Risk

RS2525218553

Pathogenic

Orofaciodigital syndrome 19, Orofaciodigital syndrome 19

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS2525218255	Health Risk	Pathogenic	Orofaciodigital syndrome 19, Orofaciodigital syndrome 19
RS2525218553	Health Risk	Pathogenic	Orofaciodigital syndrome 19, Orofaciodigital syndrome 19