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Variant : CV778860 (NM_016510.7(SCLY):c.612+7C>T) Homo sapiens

Symbol: CV778860
Name: NM_016510.7(SCLY):c.612+7C>T
Condition: not provided [RCV000966842]
Clinical Significance: benign
Last Evaluated: 03/02/2018
Review Status: criteria provided, single submitter
Related Genes: SCLY   UBE2F-SCLY  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_016510.7:c.612+7C>T
NC_000002.12:g.238081843C>T
NC_000002.11:g.238990484C>T
NC_000002.11:g.238990484C>T
NM_016510.5:c.636+7C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382238,081,843 - 238,081,843CLINVAR
GRCh372238,990,484 - 238,990,484CLINVAR
Cytogenetic Map22q37.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15144493
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-05-12
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.