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Variant : CV584950 (NM_005603.6(ATP8B1):c.921C>T (p.His307=)) Homo sapiens

Symbol: CV584950
Name: NM_005603.6(ATP8B1):c.921C>T (p.His307=)
Condition: not provided [RCV000729055]
Clinical Significance: uncertain significance
Last Evaluated: 09/19/2017
Review Status: criteria provided, single submitter
Related Genes: ATP8B1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_1205t1:c.921C>T
NM_005603.6:c.921C>T
LRG_1205:g.113633C>T
NG_007148.3:g.113633C>T
NC_000018.10:g.57695190G>A
NC_000018.9:g.55362422G>A
LRG_1205p1:p.His307=
NP_005594.2:p.His307=
NG_007148.2:g.112906C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,695,190 - 57,695,190CLINVAR
GRCh371855,362,422 - 55,362,422CLINVAR
Cytogenetic Map1818q21.31CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13833712
Created: 2019-01-08
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.