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Variant : CV390450 (NM_001130065.2(MYO9B):c.4363G>A (p.Gly1455Ser)) Homo sapiens

Symbol: CV390450
Name: NM_001130065.2(MYO9B):c.4363G>A (p.Gly1455Ser)
Condition: not specified [RCV000454780]
Clinical Significance: benign
Last Evaluated: 03/29/2016
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.129636G>A
NC_000019.10:g.17200417G>A
NC_000019.9:g.17311226G>A
NP_001123537.1:p.Gly1455Ser
NP_004136.2:p.Gly1455Ser
NM_001130065.2:c.4363G>A
NM_004145.3:c.4363G>A
NM_004145.4:c.4363G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381917,200,417 - 17,200,417CLINVAR
GRCh371917,311,226 - 17,311,226CLINVAR
Cytogenetic Map1919p13.11CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12896025
Created: 2017-05-09
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.