NM_003640.5(ELP1):c.741-4T>G AND Familial dysautonomia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001274636.1
Allele description [Variation Report for NM_003640.5(ELP1):c.741-4T>G]
NM_003640.5(ELP1):c.741-4T>G
Condition(s)
- Name:
- Familial dysautonomia (HSAN3)
- Synonyms:
- NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN III; Hereditary sensory and autonomic neuropathy 3; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009131; MedGen: C0013364; Orphanet: 1764; OMIM: 223900
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Microbe sample from Klebsiella pneumoniae
Microbe sample from Klebsiella pneumoniaebiosample
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Microbe sample from Escherichia coli
Microbe sample from Escherichia colibiosample
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Gm35314 predicted gene, 35314 [Mus musculus]
Gm35314 predicted gene, 35314 [Mus musculus]Gene ID:102638846Gene
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102638846[uid] AND (alive[prop]) (1)
Gene
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CBXT11860.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:9010432 5', m...
CBXT11860.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:9010432 5', mRNA sequencegi|133820464|gnl|dbEST|45249985|gb| 025.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024