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

TRPS1, 1-BP INS, 2441T

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jan 1, 2000
Accession:
VCV000005572.2
Variation ID:
5572
Description:
insertion
Help

TRPS1, 1-BP INS, 2441T

Allele ID
20611
Variant type
Insertion
Variant length
-
Cytogenetic location
8q24.12
Genomic location
-
HGVS
-
Protein change
-
Other names
1-BP INS, 2441T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 604386.0004
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jan 1, 2000 RCV000005914.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TRPS1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
228 272

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 2000)
no assertion criteria provided
Method: literature only
TRICHORHINOPHALANGEAL SYNDROME, TYPE I
Allele origin: germline
OMIM
Accession: SCV000026096.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Momeni P Nature genetics 2000 PMID: 10615131

Record last updated Sep 21, 2019