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NM_203395.2(IYD):c.347T>C (p.Ile116Thr)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Apr 24, 2008
Accession:
VCV000000739.1
Variation ID:
739
Description:
single nucleotide variant
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NM_203395.2(IYD):c.347T>C (p.Ile116Thr)

Allele ID
15778
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q25.1
Genomic location
6: 150389520 (GRCh38) GRCh38 UCSC
6: 150710656 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.12:g.150389520T>C
NC_000006.11:g.150710656T>C
NM_203395.2:c.347T>C NP_981932.1:p.Ile116Thr missense
... more HGVS
Protein change
I116T
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
UniProtKB: Q6PHW0#VAR_045965
OMIM: 612025.0003
dbSNP: rs121918139
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Apr 24, 2008 RCV000000775.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IYD - - GRCh38
GRCh37
130 144

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 24, 2008)
no assertion criteria provided
Method: literature only
THYROID DYSHORMONOGENESIS 4
Allele origin: germline
OMIM
Accession: SCV000020925.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Mutations in the iodotyrosine deiodinase gene and hypothyroidism. Moreno JC The New England journal of medicine 2008 PMID: 18434651

Record last updated Jun 17, 2019