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Variant : CV394054 (NM_015896.4(ZMYND10):c.510+8G>C) Homo sapiens

Symbol: CV394054
Name: NM_015896.4(ZMYND10):c.510+8G>C
Condition: Primary ciliary dyskinesia [RCV000461465]
Clinical Significance: likely benign
Last Evaluated: 01/15/2019
Review Status: criteria provided, single submitter
Related Genes: ZMYND10  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_042828.1:g.7448G>C
NC_000003.12:g.50343299C>G
NC_000003.11:g.50380730C>G
NM_015896.2:c.510+8G>C
NM_001308379.2:c.510+8G>C
NM_015896.4:c.510+8G>C
NG_023270.1:g.2638G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,343,299 - 50,343,299CLINVAR
GRCh37350,380,730 - 50,380,730CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12883366
Created: 2017-05-09
Species: Homo sapiens
Last Modified: 2020-10-20
Status: ACTIVE



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