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Variant : CV540057 (NC_000001.10:g.246168808_246692300dup) Homo sapiens

Symbol: CV540057
Name: NC_000001.10:g.246168808_246692300dup
Condition: Primary amenorrhea [RCV000754399]
Clinical Significance: uncertain significance
Last Evaluated: 06/01/2018
Review Status: criteria provided, single submitter
Related Genes: LINC01743   LOC110121251   SMYD3   SMYD3-AS1  
Variant Type: duplication (SO:1000035)
Evidence: research
HGVS Name(s): NC_000001.10:g.246168808_246692300dup
Human AssemblyChrPosition (strand)Source
GRCh381246,005,506 - 246,528,998CLINVAR
GRCh371246,168,808 - 246,692,300CLINVAR
Cytogenetic Map11q44CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14352479
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-09-29
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.