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Variant : CV717978 (NM_016510.7(SCLY):c.1233G>A (p.Arg411=)) Homo sapiens

Symbol: CV717978
Name: NM_016510.7(SCLY):c.1233G>A (p.Arg411=)
Condition: not provided [RCV000964169]
Clinical Significance: benign
Last Evaluated: 03/29/2018
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.1233G>A
NM_016510.7:c.1233G>A
NC_000002.12:g.238098250G>A
NC_000002.11:g.239006891G>A
NR_037904.1:n.1809G>A
NM_016510.5:c.1257G>A
NP_057594.5:p.Arg411=
Position
Human AssemblyChrPosition (strand)Source
GRCh382238,098,250 - 238,098,250CLINVAR
GRCh372239,006,891 - 239,006,891CLINVAR
Cytogenetic Map22q37.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15128923
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.