Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV587228 (NM_005603.6(ATP8B1):c.614dup (p.Asn205fs)) Homo sapiens

Symbol: CV587228
Name: NM_005603.6(ATP8B1):c.614dup (p.Asn205fs)
Condition: not provided [RCV000731913]
Clinical Significance: pathogenic
Last Evaluated: 02/15/2018
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.57697815dup
NC_000018.9:g.55365047dup
LRG_1205p1:p.Asn205fs
LRG_1205:g.111015dup
NG_007148.3:g.111015dup
LRG_1205t1:c.614dup
NM_005603.6:c.614dup
NG_007148.2:g.110288dup
NP_005594.2:p.Asn205fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,697,808 - 57,697,808CLINVAR
GRCh371855,365,040 - 55,365,040CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13835963
Created: 2019-01-08
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.