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NM_004273.5(CHST3):c.*4210T>C AND Skeletal dysplasia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000287614.5

Allele description [Variation Report for NM_004273.5(CHST3):c.*4210T>C]

NM_004273.5(CHST3):c.*4210T>C

Gene:
CHST3:carbohydrate sulfotransferase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_004273.5(CHST3):c.*4210T>C
HGVS:
  • NC_000010.11:g.72012681T>C
  • NG_012635.1:g.53320T>C
  • NM_004273.5:c.*4210T>CMANE SELECT
  • NC_000010.10:g.73772439T>C
  • NM_004273.4:c.*4210T>C
Links:
dbSNP: rs559945769
NCBI 1000 Genomes Browser:
rs559945769
Molecular consequence:
  • NM_004273.5:c.*4210T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Skeletal dysplasia
Synonyms:
Primary bone dysplasia
Identifiers:
MONDO: MONDO:0018230; MedGen: C0410528; Human Phenotype Ontology: HP:0002652

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000364734Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000364734.2

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

Last Updated: Dec 24, 2023