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Variant : CV519435 (NM_015896.4(ZMYND10):c.320T>C (p.Val107Ala)) Homo sapiens

Symbol: CV519435
Name: NM_015896.4(ZMYND10):c.320T>C (p.Val107Ala)
Condition: Primary ciliary dyskinesia [RCV000629408]
Clinical Significance: uncertain significance
Last Evaluated: 09/22/2017
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): NC_000003.11:g.50381046A>G
NM_015896.2:c.320T>C
NP_056980.2:p.Val107Ala
NG_042828.1:g.7132T>C
NC_000003.12:g.50343615A>G
NM_001308379.2:c.320T>C
NM_015896.4:c.320T>C
NG_023270.1:g.2322T>C
NP_001295308.1:p.Val107Ala
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,343,615 - 50,343,615CLINVAR
GRCh37350,381,046 - 50,381,046CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13609853
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2020-10-06
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.