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Variant : CV796126 (NM_020427.3(SLURP1):c.178G>A (p.Glu60Lys)) Homo sapiens

Symbol: CV796126
Name: NM_020427.3(SLURP1):c.178G>A (p.Glu60Lys)
Condition: not provided [RCV000999081]
Clinical Significance: likely pathogenic
Last Evaluated: 02/01/2017
Review Status: criteria provided, single submitter
Related Genes: SLURP1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_020427.3:c.178G>A
NG_011494.1:g.5609G>A
NC_000008.11:g.142741803C>T
NC_000008.10:g.143823221C>T
NP_065160.1:p.Glu60Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh388142,741,803 - 142,741,803CLINVAR
GRCh378143,823,221 - 143,823,221CLINVAR
Cytogenetic Map88q24.3CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 21069994
Created: 2020-02-11
Species: Homo sapiens
Last Modified: 2020-03-24
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.