NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) AND Paramyotonia congenita of Von Eulenburg
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000298316.8
Allele description [Variation Report for NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)]
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)
Condition(s)
- Name:
- Paramyotonia congenita of Von Eulenburg
- Synonyms:
- Paramyotonia congenita; Paralysis periodica paramyotonica; Eulenburg disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008195; MedGen: C0221055; Orphanet: 684; OMIM: 168300
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DNA repair protein XRCC3-like [Periophthalmus magnuspinnatus]
DNA repair protein XRCC3-like [Periophthalmus magnuspinnatus]gi|2490654156|ref|XP_033832530.2|Protein
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Taxonomy Links for Protein (Select 2490654160) (1)
Taxonomy
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Taxonomy Links for Protein (Select 2490654156) (1)
Taxonomy
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Mus musculus SH3-domain GRB2-like B1 (endophilin) (Sh3glb1), transcript variant ...
Mus musculus SH3-domain GRB2-like B1 (endophilin) (Sh3glb1), transcript variant 2, mRNAgi|530677953|ref|NM_019464.3|Nucleotide
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Profile neighbors for GEO Profiles (Select 96972732) (200)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024