NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) AND Primary familial hypertrophic cardiomyopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 1, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000148897.6
Allele description [Variation Report for NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)]
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
Condition(s)
-
Gene Links for GEO Profiles (Select 105995849) (1)
Gene
-
UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 [Homo sapiens]
UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 [Homo sapiens]Gene ID:6675Gene
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024