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Variant : CV393851 (NM_015896.4(ZMYND10):c.229G>A (p.Ala77Thr)) Homo sapiens

Symbol: CV393851
Name: NM_015896.4(ZMYND10):c.229G>A (p.Ala77Thr)
Condition: Ciliary dyskinesia, primary, 22 [RCV000765749]|Primary ciliary dyskinesia [RCV000473916]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 10/31/2018
Review Status: criteria provided, single submitter
Related Genes: ZMYND10  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_042828.1:g.6924G>A
NC_000003.12:g.50343823C>T
NC_000003.11:g.50381254C>T
NM_015896.2:c.229G>A
NP_056980.2:p.Ala77Thr
NM_001308379.2:c.229G>A
NM_015896.4:c.229G>A
NG_023270.1:g.2114G>A
NP_001295308.1:p.Ala77Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,343,823 - 50,343,823CLINVAR
GRCh37350,381,254 - 50,381,254CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS; Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12890054
Created: 2017-05-09
Species: Homo sapiens
Last Modified: 2020-10-15
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.