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Variant : CV272563 (NM_022137.6(SMOC1):c.1208G>A (p.Arg403His)) Homo sapiens

Symbol: CV272563
Name: NM_022137.6(SMOC1):c.1208G>A (p.Arg403His)
Condition: not specified [RCV000294274]
Clinical Significance: uncertain significance
Last Evaluated: 06/09/2016
Review Status: criteria provided, single submitter
Related Genes: SMOC1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_028217.1:g.148968G>A
NC_000014.9:g.70023364G>A
NC_000014.8:g.70490081G>A
NP_001030024.1:p.Arg403His
NP_071420.1:p.Arg403His
NM_001034852.3:c.1208G>A
NM_022137.6:c.1208G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381470,023,364 - 70,023,364CLINVAR
GRCh371470,490,081 - 70,490,081CLINVAR
Cytogenetic Map1414q24.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11637906
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.