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Variant : CV330439 (NM_031427.4(DNAL1):c.*6138_*6139TG[16]) Homo sapiens

Symbol: CV330439
Name: NM_031427.4(DNAL1):c.*6138_*6139TG[16]
Condition: Ciliary dyskinesia [RCV000402236]|Primary ciliary dyskinesia [RCV000402236]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: DNAL1  
Variant Type: microsatellite (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_031427.4:c.*6138_*6139TG[16]
NM_031427.3:c.*6158_*6163dupTGTGTG
NM_001201366.2:c.*6138_*6139TG[16]
NC_000014.9:g.73702080_73702081TG[16]
NC_000014.8:g.74168783_74168784TG[16]
NG_028083.2:g.62206_62207TG[16]
NG_028083.1:g.62206_62207TG[16]
Position
Human AssemblyChrPosition (strand)Source
GRCh381473,702,100 - 73,702,105CLINVAR
GRCh371474,168,803 - 74,168,808CLINVAR
Cytogenetic Map1414q24.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11635838
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.