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NM_001354712.2(THRB):c.938T>C (p.Met313Thr) AND Thyroid hormone resistance, generalized, autosomal dominant

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 27, 2010
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:
RCV000583370.1

Allele description [Variation Report for NM_001354712.2(THRB):c.938T>C (p.Met313Thr)]

NM_001354712.2(THRB):c.938T>C (p.Met313Thr)

Gene:
THRB:thyroid hormone receptor beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p24.2
Genomic location:
Preferred name:
NM_001354712.2(THRB):c.938T>C (p.Met313Thr)
HGVS:
  • NC_000003.12:g.24127705A>G
  • NG_009159.1:g.372118T>C
  • NM_000461.5:c.938T>C
  • NM_001128176.3:c.938T>C
  • NM_001128177.2:c.938T>C
  • NM_001252634.2:c.938T>C
  • NM_001354708.2:c.938T>C
  • NM_001354709.2:c.938T>C
  • NM_001354710.2:c.938T>C
  • NM_001354711.2:c.938T>C
  • NM_001354712.2:c.938T>CMANE SELECT
  • NM_001354713.2:c.938T>C
  • NM_001354714.2:c.845T>C
  • NM_001354715.2:c.845T>C
  • NP_000452.2:p.Met313Thr
  • NP_001121648.1:p.Met313Thr
  • NP_001121649.1:p.Met313Thr
  • NP_001239563.1:p.Met313Thr
  • NP_001341637.1:p.Met313Thr
  • NP_001341638.1:p.Met313Thr
  • NP_001341639.1:p.Met313Thr
  • NP_001341640.1:p.Met313Thr
  • NP_001341641.1:p.Met313Thr
  • NP_001341642.1:p.Met313Thr
  • NP_001341643.1:p.Met282Thr
  • NP_001341644.1:p.Met282Thr
  • NC_000003.11:g.24169196A>G
  • NM_000461.4:c.938T>C
  • NM_001252634.1:c.938T>C
Protein change:
M282T
Links:
dbSNP: rs1553611083
NCBI 1000 Genomes Browser:
rs1553611083
Molecular consequence:
  • NM_000461.5:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128176.3:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128177.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001252634.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354708.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354709.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354710.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354711.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354712.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354713.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354714.2:c.845T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354715.2:c.845T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Thyroid hormone resistance, generalized, autosomal dominant (GRTHD)
Synonyms:
HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES
Identifiers:
MONDO: MONDO:0008569; MedGen: C2937288; OMIM: 188570

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000692414Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Pathogenic
(Jan 27, 2010) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000692414.1

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

Last Updated: Jan 6, 2024