NM_001365536.1(SCN9A):c.2874+20T>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002132554.5
Allele description [Variation Report for NM_001365536.1(SCN9A):c.2874+20T>C]
NM_001365536.1(SCN9A):c.2874+20T>C
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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TPA: Zea mays chromosome 1
TPA: Zea mays chromosome 1gi|414864194|tpg|GK000031.2||gnl|AS _000005015|chr1.tpaNucleotide
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Homo sapiens cDNA FLJ36476 fis, clone THYMU2017085
Homo sapiens cDNA FLJ36476 fis, clone THYMU2017085gi|21752725|dbj|AK093795.1|Nucleotide
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Influenza A virus (A/California/VRDL69/2009(H1N1)) segment 5, complete sequence
Influenza A virus (A/California/VRDL69/2009(H1N1)) segment 5, complete sequencegi|284453819|gnl|NIGSP|NIGSP_CAS_00 P|gb|CY055038.1|Nucleotide
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RecName: Full=F-BAR domain only protein 2
RecName: Full=F-BAR domain only protein 2gi|119369487|sp|Q0JRZ9.2|FCHO2_HUMAProtein
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RecName: Full=CD209 antigen-like protein A; AltName: Full=Dendritic cell-specifi...
RecName: Full=CD209 antigen-like protein A; AltName: Full=Dendritic cell-specific ICAM-3-grabbing non-integrin; Short=DC-SIGN; AltName: CD_antigen=CD209gi|46395931|sp|Q91ZX1.1|C209A_MOUSEProtein
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024