NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001084258.7
Allele description [Variation Report for NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys)]
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys)
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
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hypothetical protein PUMANCARA_34 [Arthrobacter phage Pumancara]
hypothetical protein PUMANCARA_34 [Arthrobacter phage Pumancara]gi|974133453|gb|ALY09992.1|Protein
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Homo sapiens zinc finger CCHC-type containing 8 (ZCCHC8), transcript variant 1, ...
Homo sapiens zinc finger CCHC-type containing 8 (ZCCHC8), transcript variant 1, mRNAgi|1677538485|ref|NM_017612.5|Nucleotide
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Cytochrome-c peroxidase [Shewanella baltica OS195]
Cytochrome-c peroxidase [Shewanella baltica OS195]gi|160861282|gnl|jgi|Sbal195_2648|g 49816.1|Protein
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Glutamate decarboxylase [Salinisphaera sp. LB1]
Glutamate decarboxylase [Salinisphaera sp. LB1]gi|1393627155|gnl|lb|SALB1_2955|gb| 149.1|Protein
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See more...Assertion and evidence details
Last Updated: Mar 10, 2024