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Variant : CV631592 (NM_015896.4(ZMYND10):c.815G>A (p.Ser272Asn)) Homo sapiens

Symbol: CV631592
Name: NM_015896.4(ZMYND10):c.815G>A (p.Ser272Asn)
Condition: Primary ciliary dyskinesia [RCV000818748]
Clinical Significance: uncertain significance
Last Evaluated: 08/23/2018
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.800G>A
NM_015896.4:c.815G>A
NG_023270.1:g.3482G>A
NG_042828.1:g.8292G>A
NC_000003.12:g.50342455C>T
NC_000003.11:g.50379886C>T
NM_015896.2:c.815G>A
NP_001295308.1:p.Ser267Asn
NP_056980.2:p.Ser272Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,342,455 - 50,342,455CLINVAR
GRCh37350,379,886 - 50,379,886CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14733551
Created: 2019-09-06
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.