NM_002529.4(NTRK1):c.2243G>A (p.Arg748Gln) AND Hereditary insensitivity to pain with anhidrosis
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jun 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001240148.8
Allele description [Variation Report for NM_002529.4(NTRK1):c.2243G>A (p.Arg748Gln)]
NM_002529.4(NTRK1):c.2243G>A (p.Arg748Gln)
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
-
hypothetical protein BE221DRAFT_194072 [Ostreococcus tauri]
hypothetical protein BE221DRAFT_194072 [Ostreococcus tauri]gi|1199288815|gb|OUS43951.1||gnl|WG T|BE221DRAFT_194072Protein
-
hypothetical protein Naga_100011g35 [Nannochloropsis gaditana]
hypothetical protein Naga_100011g35 [Nannochloropsis gaditana]gi|585102976|gb|EWM22470.1||gnl|WGS |Naga_100011g35.3470Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024