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Variant : CV247159 (NM_001130065.2(MYO9B):c.4861C>T (p.Arg1621Trp)) Homo sapiens

Symbol: CV247159
Name: NM_001130065.2(MYO9B):c.4861C>T (p.Arg1621Trp)
Condition: not specified [RCV000239229]
Clinical Significance: uncertain significance
Last Evaluated: 10/04/2015
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.132085C>T
NC_000019.10:g.17202866C>T
NC_000019.9:g.17313675C>T
NP_001123537.1:p.Arg1621Trp
NM_001130065.2:c.4861C>T
NM_004145.4:c.4861C>T
NM_001130065.1:c.4861C>T
NP_004136.2:p.Arg1621Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh381917,202,866 - 17,202,866CLINVAR
GRCh371917,313,675 - 17,313,675CLINVAR
Cytogenetic Map1919p13.11CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11526030
Created: 2016-08-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.