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NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter) AND Trichorhinophalangeal dysplasia type I

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000505335.10

Allele description [Variation Report for NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter)]

NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter)

Gene:
TRPS1:transcriptional repressor GATA binding 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
8q23.3
Genomic location:
Preferred name:
NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter)
HGVS:
  • NC_000008.11:g.115604793dup
  • NG_012383.3:g.69209dup
  • NM_001282902.3:c.1149dup
  • NM_001282903.3:c.1155dup
  • NM_001330599.2:c.1137dup
  • NM_014112.5:c.1176dupMANE SELECT
  • NP_001269831.1:p.Asn384Ter
  • NP_001269832.1:p.Asn386Ter
  • NP_001317528.1:p.Asn380Ter
  • NP_054831.2:p.Asn393Ter
  • NC_000008.10:g.116617019_116617020insA
  • NC_000008.10:g.116617020dup
  • NM_014112.2:c.1176dupT
  • NM_014112.4:c.1176dup
Protein change:
N380*
Links:
dbSNP: rs1554596328
NCBI 1000 Genomes Browser:
rs1554596328
Molecular consequence:
  • NM_001282902.3:c.1149dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282903.3:c.1155dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330599.2:c.1137dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014112.5:c.1176dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Trichorhinophalangeal dysplasia type I (TRPS1)
Synonyms:
TRPS I; Trichorhinophalangeal syndrome type 1; Giedion syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008596; MedGen: C0432233; Orphanet: 77258; OMIM: 190350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000599560GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, et al.

Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16.

PubMed [citation]
PMID:
25792522

Details of each submission

From GeneReviews, SCV000599560.2

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

Last Updated: Apr 15, 2024