Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000208.4(INSR):c.167T>C (p.Ile56Thr)

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 6, 2017)
Last evaluated:
Mar 6, 2017
Accession:
VCV000504474.1
Variation ID:
504474
Description:
single nucleotide variant
Help

NM_000208.4(INSR):c.167T>C (p.Ile56Thr)

Allele ID
495914
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 7267830 (GRCh38) GRCh38 UCSC
19: 7267841 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.7267830A>G
NC_000019.9:g.7267841A>G
NM_000208.4:c.167T>C NP_000199.2:p.Ile56Thr missense
... more HGVS
Protein change
I56T
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA403160537
dbSNP: rs1555689937
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Mar 6, 2017 RCV000599040.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
INSR - - GRCh38
GRCh37
316 329

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 06, 2017)
no assertion criteria provided
Method: literature only
Leprechaunism syndrome
Allele origin: germline
GeneReviews
Accession: SCV000710798.1
Submitted: (Mar 06, 2017)
Evidence details
Publications
PubMed (2)
BookShelf: NBK476444

Citations for this variant

Title Author Journal Year Link
<i>INSR</i>-Related Severe Syndromic Insulin Resistance Ben Harouch S - 2018 PMID: 29369573
Two novel mutations identified in familial cases with Donohue syndrome. Falik Zaccai TC Molecular genetics & genomic medicine 2014 PMID: 24498630

Record last updated Oct 27, 2019