NM_001365536.1(SCN9A):c.3110A>T (p.Tyr1037Phe) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003792210.2
Allele description [Variation Report for NM_001365536.1(SCN9A):c.3110A>T (p.Tyr1037Phe)]
NM_001365536.1(SCN9A):c.3110A>T (p.Tyr1037Phe)
Condition(s)
- Name:
- Neuropathy, hereditary sensory and autonomic, type 2A (HSAN2A)
- Synonyms:
- ACROOSTEOLYSIS, GIACCAI TYPE; ACROOSTEOLYSIS, NEUROGENIC; HSAN IIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024309; MedGen: C2752089; Orphanet: 970; OMIM: 201300
-
Mus musculus eukaryotic translation initiation factor 5, mRNA (cDNA clone IMAGE:...
Mus musculus eukaryotic translation initiation factor 5, mRNA (cDNA clone IMAGE:4024934), with apparent retained introngi|15126573|gb|BC012220.1|Nucleotide
-
Esterase D/formylglutathione hydrolase [Homo sapiens]
Esterase D/formylglutathione hydrolase [Homo sapiens]gi|12654663|gb|AAH01169.1|Protein
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Last Updated: Sep 29, 2024