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Variant : CV615455 (NM_001987.4(ETV6):c.791G>A (p.Arg264His)) Homo sapiens

Symbol: CV615455
Name: NM_001987.4(ETV6):c.791G>A (p.Arg264His)
Condition: Thrombocytopenia [RCV000851883]
Clinical Significance: uncertain significance
Last Evaluated: 02/01/2019
Review Status: criteria provided, single submitter
Related Genes: ETV6  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): LRG_609:g.224898G>A
NP_001978.1:p.Arg264His
NC_000012.12:g.11869751G>A
NM_001987.4:c.791G>A
NC_000012.11:g.12022685G>A
LRG_609p1:p.Arg264His
LRG_609t1:c.791G>A
NM_001987.4:c.791G>A
NG_011443.1:g.224898G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381211,869,751 - 11,869,751CLINVAR
GRCh371212,022,685 - 12,022,685CLINVAR
Cytogenetic Map1212p13.2CLINVAR
Trait Synonyms: Low platelet count



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14975680
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2019-11-05
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.