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Variant : CV255042 (NM_022137.6(SMOC1):c.1161C>T (p.Phe387=)) Homo sapiens

Symbol: CV255042
Name: NM_022137.6(SMOC1):c.1161C>T (p.Phe387=)
Condition: not specified [RCV000244730]
Clinical Significance: benign
Last Evaluated:
Review Status: criteria provided, single submitter
Related Genes: SMOC1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001034852.3:c.1161C>T
NM_022137.6:c.1161C>T
NM_001034852.2:c.1161C>T
NG_028217.1:g.148921C>T
NC_000014.9:g.70023317C>T
NC_000014.8:g.70490034C>T
NP_001030024.1:p.Phe387=
NP_071420.1:p.Phe387=
Position
Human AssemblyChrPosition (strand)Source
GRCh381470,023,317 - 70,023,317CLINVAR
GRCh371470,490,034 - 70,490,034CLINVAR
Cytogenetic Map1414q24.2CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11545132
Created: 2016-10-11
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.