NM_001365536.1(SCN9A):c.2678A>G (p.Lys893Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001214781.7
Allele description [Variation Report for NM_001365536.1(SCN9A):c.2678A>G (p.Lys893Arg)]
NM_001365536.1(SCN9A):c.2678A>G (p.Lys893Arg)
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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Mus musculus Rho-related BTB domain containing 1 (Rhobtb1), transcript variant 3...
Mus musculus Rho-related BTB domain containing 1 (Rhobtb1), transcript variant 3, mRNAgi|358001065|ref|NM_001252637.1|Nucleotide
-
Homo sapiens cystatin S, mRNA (cDNA clone MGC:103894 IMAGE:30915278), complete c...
Homo sapiens cystatin S, mRNA (cDNA clone MGC:103894 IMAGE:30915278), complete cdsgi|50960562|gb|BC074952.2|Nucleotide
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DC057363 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus lae...
DC057363 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus laevis cDNA clone xlk69n06ex 5', mRNA sequencegi|118939236|gnl|dbEST|43247311|dbj 7363.1|Nucleotide
-
JGI_CAAL6372.fwd NIH_XGC_tropBrn4 Xenopus tropicalis cDNA clone IMAGE:7664676 5'...
JGI_CAAL6372.fwd NIH_XGC_tropBrn4 Xenopus tropicalis cDNA clone IMAGE:7664676 5', mRNA sequencegi|58506020|gnl|dbEST|27548754|gb|C 34.1|Nucleotide
-
AGENCOURT_13845673 NICHD_XGC_Tad2 Xenopus laevis cDNA clone IMAGE:6933867 5', mR...
AGENCOURT_13845673 NICHD_XGC_Tad2 Xenopus laevis cDNA clone IMAGE:6933867 5', mRNA sequencegi|30191998|gnl|dbEST|17732661|gb|C 00.1|Nucleotide
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Last Updated: Sep 29, 2024