NM_003292.3(TPR):c.1037T>C (p.Ile346Thr) AND Intellectual disability

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
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:: RCV000578403.1

Allele description

NM_003292.3(TPR):c.1037T>C (p.Ile346Thr)

Gene:

TPR:translocated promoter region, nuclear basket protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.1

Genomic location:

Preferred name:

NM_003292.3(TPR):c.1037T>C (p.Ile346Thr)

HGVS:

NC_000001.11:g.186360827A>G
NG_023284.1:g.19499T>C
NM_003292.3:c.1037T>CMANE SELECT
NP_003283.2:p.Ile346Thr
NC_000001.10:g.186329959A>G

Protein change:

I346T

Links:

dbSNP: rs199892357

NCBI 1000 Genomes Browser:

rs199892357

Molecular consequence:

NM_003292.3:c.1037T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Intellectual disability
Synonyms:: Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:: MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000680439	Lars Feuk Lab, Uppsala University	no assertion criteria provided	Uncertain significance	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680439

Lars Feuk Lab, Uppsala University

no assertion criteria provided

Uncertain significance

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
European	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Lars Feuk Lab, Uppsala University, SCV000680439.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	European	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 13, 2023

ClinVar

Relating variation to medicine