NM_002529.4(NTRK1):c.1355-9C>T AND Hereditary insensitivity to pain with anhidrosis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003624757.2
Allele description [Variation Report for NM_002529.4(NTRK1):c.1355-9C>T]
NM_002529.4(NTRK1):c.1355-9C>T
Condition(s)
- Name:
- Hereditary insensitivity to pain with anhidrosis (CIPA)
- Synonyms:
- FAMILIAL DYSAUTONOMIA, TYPE II; Insensitivity to pain, congenital, with anhidrosis; Neuropathy, congenital sensory, with anhidrosis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009746; MedGen: C0020074; Orphanet: 642; OMIM: 256800
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PREDICTED: Canis lupus familiaris general transcription factor IIF subunit 1 (GT...
PREDICTED: Canis lupus familiaris general transcription factor IIF subunit 1 (GTF2F1), transcript variant X2, mRNAgi|1953012523|ref|XM_038567560.1|Nucleotide
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Abnormal limb bone morphology
Abnormal limb bone morphologyMedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024