NM_000360.4(TH):c.824T>G (p.Val275Gly) AND Autosomal recessive DOPA responsive dystonia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001894009.6
Allele description [Variation Report for NM_000360.4(TH):c.824T>G (p.Val275Gly)]
NM_000360.4(TH):c.824T>G (p.Val275Gly)
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
-
AGENCOURT_78596992 NICHD_XGC_thy Xenopus laevis cDNA clone IMAGE:8550976 3', mRN...
AGENCOURT_78596992 NICHD_XGC_thy Xenopus laevis cDNA clone IMAGE:8550976 3', mRNA sequencegi|95010598|gnl|dbEST|39152562|gb|E 82.1|Nucleotide
-
Polymerase (DNA directed), mu [Mus musculus]
Polymerase (DNA directed), mu [Mus musculus]gi|33440487|gb|AAH56213.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024