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Variant : CV272953 (NM_005603.6(ATP8B1):c.3410C>G (p.Ser1137Ter)) Homo sapiens

Symbol: CV272953
Name: NM_005603.6(ATP8B1):c.3410C>G (p.Ser1137Ter)
Condition: Progressive intrahepatic cholestasis [RCV000295604]
Clinical Significance: pathogenic
Last Evaluated: 06/09/2016
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant|nonsense
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.57650488G>C
NC_000018.9:g.55317720G>C
NM_005603.6:c.3410C>G
NG_007148.3:g.158335C>G
NP_005594.2:p.Ser1137Ter
LRG_1205p1:p.Ser1137Ter
LRG_1205t1:c.3410C>G
LRG_1205:g.158335C>G
NM_001242804.2:c.139+8436G>C
NG_007148.2:g.157608C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,650,488 - 57,650,488CLINVAR
GRCh371855,317,720 - 55,317,720CLINVAR
Cytogenetic Map1818q21.31CLINVAR
Prevalence: 1-9 / 100 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11579105
Created: 2017-01-11
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.