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

Variant : CV273794 (NM_005603.6(ATP8B1):c.913T>A (p.Phe305Ile)) Homo sapiens

Symbol: CV273794
Name: NM_005603.6(ATP8B1):c.913T>A (p.Phe305Ile)
Condition: not provided [RCV000766301]|not specified [RCV000263650]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 01/11/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.57695198A>T
NC_000018.9:g.55362430A>T
LRG_1205:g.113625T>A
NM_005603.4:c.913T>A
O43520:p.Phe305Ile
NG_007148.3:g.113625T>A
NM_005603.6:c.913T>A
NP_005594.2:p.Phe305Ile
LRG_1205t1:c.913T>A
LRG_1205p1:p.Phe305Ile
NG_007148.2:g.112898T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,695,198 - 57,695,198CLINVAR
GRCh371855,362,430 - 55,362,430CLINVAR
Cytogenetic Map1818q21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11636141
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

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