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Variant : CV943630 (NM_015896.4(ZMYND10):c.1291G>A (p.Val431Ile)) Homo sapiens

Symbol: CV943630
Name: NM_015896.4(ZMYND10):c.1291G>A (p.Val431Ile)
Condition: Primary ciliary dyskinesia [RCV001235428]
Clinical Significance: uncertain significance
Last Evaluated: 11/07/2019
Review Status: criteria provided, multiple submitters, no conflicts|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.1276G>A
NM_015896.4:c.1291G>A
NG_023270.1:g.4495G>A
NG_042828.1:g.9305G>A
NC_000003.12:g.50341442C>T
NC_000003.11:g.50378873C>T
NM_015896.2:c.1291G>A
NP_001295308.1:p.Val426Ile
NP_056980.2:p.Val431Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,341,442 - 50,341,442CLINVAR
GRCh37350,378,873 - 50,378,873CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 38482157
Created: 2020-08-11
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.