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Variant : CV717977 (NM_016510.7(SCLY):c.976G>A (p.Val326Ile)) Homo sapiens

Symbol: CV717977
Name: NM_016510.7(SCLY):c.976G>A (p.Val326Ile)
Condition: not provided [RCV000966843]
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:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000002.11:g.239002556G>A
NR_037904.1:n.1552G>A
NM_016510.5:c.1000G>A
NP_057594.5:p.Val326Ile
NM_016510.7:c.976G>A
NM_016510.7:c.976G>A
NC_000002.12:g.238093915G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh382238,093,915 - 238,093,915CLINVAR
GRCh372239,002,556 - 239,002,556CLINVAR
Cytogenetic Map22q37.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15144499
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-05-26
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.