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Variant : CV507017 (NM_005603.6(ATP8B1):c.835C>T (p.Leu279=)) Homo sapiens

Symbol: CV507017
Name: NM_005603.6(ATP8B1):c.835C>T (p.Leu279=)
Condition: not specified [RCV000601481]
Clinical Significance: likely benign
Last Evaluated: 04/04/2017
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): NM_005603.4:c.835C>T
NC_000018.10:g.57695276G>A
NC_000018.9:g.55362508G>A
NM_005603.6:c.835C>T
NG_007148.3:g.113547C>T
NP_005594.2:p.Leu279=
LRG_1205t1:c.835C>T
LRG_1205:g.113547C>T
LRG_1205p1:p.Leu279=
NG_007148.2:g.112820C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381857,695,276 - 57,695,276CLINVAR
GRCh371855,362,508 - 55,362,508CLINVAR
Cytogenetic Map1818q21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13532810
Created: 2018-05-08
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.