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Variant : CV376023 (NM_005603.6(ATP8B1):c.1029+19A>C) Homo sapiens

Symbol: CV376023
Name: NM_005603.6(ATP8B1):c.1029+19A>C
Condition: not specified [RCV000443092]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 01/04/2018
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.57694563T>G
NC_000018.9:g.55361795T>G
NM_005603.4:c.1029+19A>C
NG_007148.3:g.114260A>C
NM_005603.6:c.1029+19A>C
LRG_1205t1:c.1029+19A>C
LRG_1205:g.114260A>C
NG_007148.2:g.113533A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,694,563 - 57,694,563CLINVAR
GRCh371855,361,795 - 55,361,795CLINVAR
Cytogenetic Map1818q21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12847216
Created: 2017-04-11
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.