NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys) AND Early-onset myopathy with fatal cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001358691.3
Allele description [Variation Report for NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys)]
NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys)
Condition(s)
-
Gsk3b glycogen synthase kinase 3 beta [Mus musculus]
Gsk3b glycogen synthase kinase 3 beta [Mus musculus]Gene ID:56637Gene
-
Homologene neighbors for GEO Profiles (Select 128660339) (0)
GEO Profiles
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Gene Links for GEO Profiles (Select 128660342) (1)
Gene
-
Homologene neighbors for GEO Profiles (Select 128660334) (0)
GEO Profiles
-
Lrrc58 leucine rich repeat containing 58 [Mus musculus]
Lrrc58 leucine rich repeat containing 58 [Mus musculus]Gene ID:320184Gene
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See more...Assertion and evidence details
Last Updated: Jul 29, 2024