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Variant : CV260481 (NM_001330700.1(TOP2B):c.187C>T (p.His63Tyr)) Homo sapiens

Symbol: CV260481
Name: NM_001330700.1(TOP2B):c.187C>T (p.His63Tyr)
Condition: Autism spectrum disorder [RCV000256202]
Clinical Significance: likely pathogenic
Last Evaluated: 10/11/2016
Review Status: no assertion criteria provided
Related Genes: TOP2B  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001068.3:c.172C>T
NC_000003.12:g.25645353G>A
NC_000003.11:g.25686844G>A
NM_001068.2:c.172C>T
NP_001059.2:p.His58Tyr
NM_001330700.1:c.187C>T
NP_001317629.1:p.His63Tyr
NG_052961.1:g.24020C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38325,645,353 - 25,645,353CLINVAR
GRCh37325,686,844 - 25,686,844CLINVAR
Cytogenetic Map33p24.2CLINVAR
Trait Synonyms: Autism spectrum disorders; Autism susceptibility



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11558201
Created: 2016-11-08
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.