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

Variant : CV256687 (NM_005603.6(ATP8B1):c.3699G>A (p.Pro1233=)) Homo sapiens

Symbol: CV256687
Name: NM_005603.6(ATP8B1):c.3699G>A (p.Pro1233=)
Condition: not specified [RCV000246824]
Clinical Significance: benign
Last Evaluated: 05/09/2016
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.57648545C>T
NC_000018.9:g.55315777C>T
NM_005603.4:c.3699G>A
NG_007148.3:g.160278G>A
NM_005603.6:c.3699G>A
NP_005594.2:p.Pro1233=
LRG_1205t1:c.3699G>A
LRG_1205p1:p.Pro1233=
LRG_1205:g.160278G>A
NM_001242804.2:c.139+6493C>T
NG_007148.2:g.159551G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,648,545 - 57,648,545CLINVAR
GRCh371855,315,777 - 55,315,777CLINVAR
Cytogenetic Map1818q21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11546718
Created: 2016-10-11
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.