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Variant : CV22313 (NM_005603.6(ATP8B1):c.1804C>T (p.Arg602Ter)) Homo sapiens

Symbol: CV22313
Name: NM_005603.6(ATP8B1):c.1804C>T (p.Arg602Ter)
Condition: Progressive intrahepatic cholestasis [RCV000007697]
Clinical Significance: pathogenic
Last Evaluated: 12/07/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense
Evidence: literature only
HGVS Name(s): NC_000018.10:g.57674849G>A
NC_000018.9:g.55342081G>A
NM_005603.6:c.1804C>T
NG_007148.3:g.133974C>T
NP_005594.2:p.Arg602Ter
LRG_1205t1:c.1804C>T
LRG_1205:g.133974C>T
LRG_1205p1:p.Arg602Ter
NG_007148.2:g.133247C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,674,849 - 57,674,849CLINVAR
GRCh371855,342,081 - 55,342,081CLINVAR
Cytogenetic Map1818q21.31CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8597482
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.