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Variant : CV106701 (NM_002499.3(NEO1):c.2935C>G (p.Pro979Ala)) Homo sapiens

Symbol: CV106701
Name: NM_002499.3(NEO1):c.2935C>G (p.Pro979Ala)
Condition: not provided [RCV000087203]
Clinical Significance: likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
Last Evaluated:
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: NEO1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only|not provided
HGVS Name(s): NM_002499.3:c.2935C>G
NG_016965.1:g.225049C>G
NC_000015.10:g.73272532C>G
NC_000015.9:g.73564873C>G
NP_002490.2:p.Pro979Ala
Position
Human AssemblyChrPosition (strand)Source
GRCh381573,272,532 - 73,272,532CLINVAR
GRCh371573,564,873 - 73,564,873CLINVAR
Cytogenetic Map1515q24.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8647065
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-06-18
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.