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Variant : CV79337 (NM_005745.7(BCAP31):c.97C>T (p.Gln33Ter)) Homo sapiens

Symbol: CV79337
Name: NM_005745.7(BCAP31):c.97C>T (p.Gln33Ter)
Condition: Chromosome Xq28 deletion syndrome [RCV000059316]
Clinical Significance: pathogenic
Last Evaluated: 10/18/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BCAP31  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: literature only
HGVS Name(s): NM_001139457.2:c.298C>T
NM_001256447.2:c.97C>T
NG_009022.2:g.1101G>A
NP_001132929.1:p.Gln100Ter
NP_001243376.1:p.Gln33Ter
NM_005745.7:c.97C>T
NM_001139441.1:c.97C>T
NG_023231.1:g.8779C>T
NC_000023.11:g.153720968G>A
NC_000023.10:g.152986423G>A
NP_001132913.1:p.Gln33Ter
NP_005736.3:p.Gln33Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,720,968 - 153,720,968CLINVAR
GRCh37X152,986,423 - 152,986,423CLINVAR
Cytogenetic MapXXq28CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8573588
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
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.