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Variant : CV828358 (NM_015896.4(ZMYND10):c.944C>A (p.Ala315Asp)) Homo sapiens

Symbol: CV828358
Name: NM_015896.4(ZMYND10):c.944C>A (p.Ala315Asp)
Condition: Primary ciliary dyskinesia [RCV001050556]
Clinical Significance: uncertain significance
Last Evaluated: 02/07/2019
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): NM_001308379.2:c.929C>A
NM_015896.4:c.944C>A
NG_023270.1:g.3867C>A
NG_042828.1:g.8677C>A
NC_000003.12:g.50342070G>T
NC_000003.11:g.50379501G>T
NM_015896.2:c.944C>A
NP_001295308.1:p.Ala310Asp
NP_056980.2:p.Ala315Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,342,070 - 50,342,070CLINVAR
GRCh37350,379,501 - 50,379,501CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 26903772
Created: 2020-05-12
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.