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NM_001354712.2(THRB):c.*3910del AND Thyroid hormone resistance syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV000313774.5

Allele description [Variation Report for NM_001354712.2(THRB):c.*3910del]

NM_001354712.2(THRB):c.*3910del

Gene:
THRB:thyroid hormone receptor beta [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p24.2
Genomic location:
Preferred name:
NM_001354712.2(THRB):c.*3910del
HGVS:
  • NC_000003.12:g.24119003del
  • NG_009159.1:g.380849del
  • NM_000461.5:c.*3910del
  • NM_001128176.3:c.*3910del
  • NM_001128177.2:c.*3910del
  • NM_001252634.2:c.*3910del
  • NM_001354708.2:c.*3910del
  • NM_001354709.2:c.*3910del
  • NM_001354710.2:c.*3910del
  • NM_001354711.2:c.*3910del
  • NM_001354712.2:c.*3910delMANE SELECT
  • NM_001354713.2:c.*3910del
  • NM_001354714.2:c.*3910del
  • NM_001354715.2:c.*3910del
  • NC_000003.11:g.24160494del
  • NM_000461.4:c.*3910delA
...more
Links:
dbSNP: rs559325556
NCBI 1000 Genomes Browser:
rs559325556
Molecular consequence:
  • NM_000461.5:c.*3910del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001128176.3:c.*3910del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001128177.2:c.*3910del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001252634.2:c.*3910del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354708.2:c.*3910del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354709.2:c.*3910del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354710.2:c.*3910del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354711.2:c.*3910del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354712.2:c.*3910del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354713.2:c.*3910del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354714.2:c.*3910del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001354715.2:c.*3910del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Thyroid hormone resistance syndrome
Identifiers:
MONDO: MONDO:0001328; MedGen: C2940786

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000442720Illumina 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

Last Updated: Apr 9, 2023

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