NM_000360.4(TH):c.1209G>C (p.Leu403=) AND Autosomal recessive DOPA responsive dystonia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003624394.2
Allele description [Variation Report for NM_000360.4(TH):c.1209G>C (p.Leu403=)]
NM_000360.4(TH):c.1209G>C (p.Leu403=)
Condition(s)
- Name:
- Autosomal recessive DOPA responsive dystonia
- Synonyms:
- Segawa syndrome, autosomal recessive; DYT-TH; TH-deficient dopa-responsive dystonia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011551; MedGen: C2673535; Orphanet: 101150; OMIM: 605407
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Homo sapiens cDNA clone IMAGE:9051925, containing frame-shift errors
Homo sapiens cDNA clone IMAGE:9051925, containing frame-shift errorsgi|219517830|gb|BC143417.1|Nucleotide
-
AL959855 XGC-gastrula Xenopus tropicalis cDNA clone TGas111c12 5', mRNA sequence
AL959855 XGC-gastrula Xenopus tropicalis cDNA clone TGas111c12 5', mRNA sequencegi|38702392|gnl|dbEST|20725668|emb| 855.2|Nucleotide
-
Homo sapiens cDNA clone IMAGE:5180053
Homo sapiens cDNA clone IMAGE:5180053gi|20810109|gb|BC029124.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024