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Variant : CV717979 (NM_016510.7(SCLY):c.1275C>T (p.Ala425=)) Homo sapiens

Symbol: CV717979
Name: NM_016510.7(SCLY):c.1275C>T (p.Ala425=)
Condition: not provided [RCV000970918]
Clinical Significance: benign
Last Evaluated: 12/13/2017
Review Status: criteria provided, single submitter
Related Genes: SCLY   UBE2F-SCLY  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant
Evidence: clinical testing
HGVS Name(s): NM_016510.7:c.1275C>T
NM_016510.7:c.1275C>T
NC_000002.12:g.238098292C>T
NC_000002.11:g.239006933C>T
NR_037904.1:n.1851C>T
NM_016510.5:c.1299C>T
NP_057594.5:p.Ala425=
Position
Human AssemblyChrPosition (strand)Source
GRCh382238,098,292 - 238,098,292CLINVAR
GRCh372239,006,933 - 239,006,933CLINVAR
Cytogenetic Map22q37.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15165292
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-05-19
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.