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Variant : CV631600 (NM_015896.4(ZMYND10):c.236A>G (p.Glu79Gly)) Homo sapiens

Symbol: CV631600
Name: NM_015896.4(ZMYND10):c.236A>G (p.Glu79Gly)
Condition: Primary ciliary dyskinesia [RCV000815429]
Clinical Significance: uncertain significance
Last Evaluated: 08/17/2018
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): NM_001308379.2:c.236A>G
NM_015896.4:c.236A>G
NG_023270.1:g.2121A>G
NG_042828.1:g.6931A>G
NC_000003.12:g.50343816T>C
NC_000003.11:g.50381247T>C
NM_015896.2:c.236A>G
NP_001295308.1:p.Glu79Gly
NP_056980.2:p.Glu79Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,343,816 - 50,343,816CLINVAR
GRCh37350,381,247 - 50,381,247CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000815429 CLINVAR
dbSNP (RS) rs1438398042 CLINVAR
MedGen C0008780 CLINVAR
NCBI Gene ZMYND10 CLINVAR
OMIM 607070 CLINVAR

 
CRRD Object Information
CRRD ID: 14725947
Created: 2019-09-06
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.