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Variant : CV215563 (NM_001130065.2(MYO9B):c.1487G>A (p.Arg496Gln)) Homo sapiens

Symbol: CV215563
Name: NM_001130065.2(MYO9B):c.1487G>A (p.Arg496Gln)
Condition: not specified [RCV000202680]
Clinical Significance: uncertain significance
Last Evaluated: 06/11/2015
Review Status: criteria provided, single submitter
Related Genes: MYO9B  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_013068.1:g.91637G>A
NC_000019.10:g.17162417G>A
NC_000019.9:g.17273227G>A
NP_001123537.1:p.Arg496Gln
NP_004136.2:p.Arg496Gln
NM_001130065.2:c.1487G>A
NM_004145.4:c.1487G>A
NM_001130065.1:c.1487G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381917,162,417 - 17,162,417CLINVAR
GRCh371917,273,227 - 17,273,227CLINVAR
Cytogenetic Map1919p13.11CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10449647
Created: 2016-01-12
Species: Homo sapiens
Last Modified: 2020-01-14
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.