NM_001365088.1(SLC12A6):c.3043-75C>T AND Agenesis of the corpus callosum with peripheral neuropathy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001542810.2
Allele description [Variation Report for NM_001365088.1(SLC12A6):c.3043-75C>T]
NM_001365088.1(SLC12A6):c.3043-75C>T
Condition(s)
- Name:
- Agenesis of the corpus callosum with peripheral neuropathy (ACCPN)
- Synonyms:
- Andermann syndrome; Charlevoix disease; Corpus callosum agenesis neuronopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0000902; MedGen: C0795950; Orphanet: 1496; OMIM: 218000
-
1801908[uid] (1)
Taxonomy
-
SAMN23848205 (1)
BioSample
-
Typhle6_SAT_ALLO
Typhle6_SAT_ALLObiosample
-
Gene Links for Protein (Select 2217313066) (1)
Gene
-
TNRC6C trinucleotide repeat containing adaptor 6C [Homo sapiens]
TNRC6C trinucleotide repeat containing adaptor 6C [Homo sapiens]Gene ID:57690Gene
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023