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Variant : CV311030 (NM_003165.4(STXBP1):c.17-11G>A) Homo sapiens

Symbol: CV311030
Name: NM_003165.4(STXBP1):c.17-11G>A
Condition: Early Infantile Epileptic Encephalopathy, Autosomal Dominant [RCV000349243]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: MIR3911   STXBP1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_016623.1:g.83558G>A
NC_000009.12:g.127690764G>A
NC_000009.11:g.130453043G>A
NM_003165.4:c.17-11G>A
NM_001032221.4:c.1703-11G>A
NR_037473.1:n.32C>T
NM_003165.3:c.*17-11G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh389127,690,764 - 127,690,764CLINVAR
GRCh379130,453,043 - 130,453,043CLINVAR
Cytogenetic Map99q34.11CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11607935
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-07-28
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.