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Variant : CV647323 (NM_005359.5:c.1588C>A) Homo sapiens

Symbol: CV647323
Name: NM_005359.5:c.1588C>A
Condition: Juvenile polyposis syndrome [RCV000803166]
Clinical Significance: uncertain significance
Last Evaluated: 07/23/2018
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NM_005359.5:c.1588C>A
LRG_318t1:c.1588C>A
LRG_318:g.115357C>A
NG_013013.2:g.115357C>A
NC_000018.10:g.51078396C>A
NC_000018.9:g.48604766C>A
LRG_318p1:p.His530Asn
NP_005350.1:p.His530Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,078,396 - 51,078,396CLINVAR
GRCh371848,604,766 - 48,604,766CLINVAR
Cytogenetic Map1818q21.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14716240
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2019-12-03
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.