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NM_000360.4(TH):c.487+118G>A AND Autosomal recessive DOPA responsive dystonia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 29, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003992096.1

Allele description [Variation Report for NM_000360.4(TH):c.487+118G>A]

NM_000360.4(TH):c.487+118G>A

Gene:
TH:tyrosine hydroxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000360.4(TH):c.487+118G>A
HGVS:
  • NC_000011.10:g.2168373C>T
  • NG_008128.1:g.8433G>A
  • NM_000360.4:c.487+118G>AMANE SELECT
  • NM_199292.3:c.580+118G>A
  • NM_199293.3:c.568+118G>A
  • NC_000011.9:g.2189603C>T
Molecular consequence:
  • NM_000360.4:c.487+118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_199292.3:c.580+118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_199293.3:c.568+118G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004812015Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
no assertion criteria provided
Uncertain significance
(Jan 29, 2024)
maternalclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV004812015.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providedBloodnot provided1not providednot providednot provided

Last Updated: Apr 15, 2024