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

MTMR2, IVS13, G-A, +1

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
May 1, 2000
Accession:
VCV000006232.1
Variation ID:
6232
Description:
single nucleotide variant
Help

MTMR2, IVS13, G-A, +1

Allele ID
21271
Variant type
single nucleotide variant
Variant length
-
Cytogenetic location
11q22
Genomic location
-
HGVS
-
Protein change
-
Other names
IVS13, G-A, +1
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 603557.0002
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided May 1, 2000 RCV000006610.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MTMR2 - - GRCh38
GRCh37
197 212

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 01, 2000)
no assertion criteria provided
Method: literature only
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
Allele origin: germline
OMIM
Accession: SCV000026793.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Bolino A Nature genetics 2000 PMID: 10802647

Record last updated Jul 29, 2019