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

46,Y,inv(X)(p21.1q13.3)

Help
Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 18, 2019)
Accession:
VCV000694513.1
Variation ID:
694513
Description:
inversion
Help

46,Y,inv(X)(p21.1q13.3)

Allele ID
682500
Variant type
Inversion
Variant length
-
Cytogenetic location
Xp21.1-q13.3
Genomic location
X: 32196272-75245806 (GRCh37) GRCh37 UCSC
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV000856573.1

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Elevated serum creatine phosphokinase
(X-linked inheritance)
Allele origin: unknown
Institute of Human Genetics,University of Wuerzburg
Accession: SCV000999006.1
Submitted: (Nov 18, 2019)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 14, 2021