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NM_004082.5(DCTN1):c.233A>G (p.Tyr78Cys) AND Perry syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2016
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:
RCV003447411.1

Allele description [Variation Report for NM_004082.5(DCTN1):c.233A>G (p.Tyr78Cys)]

NM_004082.5(DCTN1):c.233A>G (p.Tyr78Cys)

Gene:
DCTN1:dynactin subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.1
Genomic location:
Preferred name:
NM_004082.5(DCTN1):c.233A>G (p.Tyr78Cys)
HGVS:
  • NC_000002.12:g.74378046T>C
  • NG_008735.2:g.19042A>G
  • NM_001135040.3:c.233A>G
  • NM_001190836.2:c.182A>G
  • NM_001190837.2:c.233A>G
  • NM_001378991.1:c.182A>G
  • NM_001378992.1:c.182A>G
  • NM_004082.4:c.233A>G
  • NM_004082.5:c.233A>GMANE SELECT
  • NP_001128512.1:p.Tyr78Cys
  • NP_001177765.1:p.Tyr61Cys
  • NP_001177766.1:p.Tyr78Cys
  • NP_001365920.1:p.Tyr61Cys
  • NP_001365921.1:p.Tyr61Cys
  • NP_004073.2:p.Tyr78Cys
  • LRG_237:g.19042A>G
  • NC_000002.11:g.74605173T>C
  • NR_033935.2:n.273A>G
  • Q14203:p.Tyr78Cys
Protein change:
Y61C
Links:
UniProtKB: Q14203#VAR_071453; dbSNP: rs886039229
NCBI 1000 Genomes Browser:
rs886039229
Molecular consequence:
  • NM_001135040.3:c.233A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190836.2:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190837.2:c.233A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378991.1:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378992.1:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004082.5:c.233A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033935.2:n.273A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Perry syndrome
Synonyms:
Parkinsonism with alveolar hypoventilation and mental depression
Identifiers:
MONDO: MONDO:0008201; MedGen: C1868594; Orphanet: 178509; OMIM: 168605

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004174752Inherited Neuropathy Consortium Ii, University Of Miami
no assertion criteria provided
Uncertain significance
(Jan 6, 2016) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Expansion of the clinicopathological and mutational spectrum of Perry syndrome.

Chung EJ, Hwang JH, Lee MJ, Hong JH, Ji KH, Yoo WK, Kim SJ, Song HK, Lee CS, Lee MS, Kim YJ.

Parkinsonism Relat Disord. 2014 Apr;20(4):388-93. doi: 10.1016/j.parkreldis.2014.01.010. Epub 2014 Jan 22.

PubMed [citation]
PMID:
24484619

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174752.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 17, 2023