Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV79335 (NM_005745.7(BCAP31):c.194-2A>G) Homo sapiens

Symbol: CV79335
Name: NM_005745.7(BCAP31):c.194-2A>G
Condition: Chromosome Xq28 deletion syndrome [RCV000059314]
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:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Nucleotide Change: ivs3as, a-g, -2
Evidence: literature only
HGVS Name(s): NM_005745.7:c.194-2A>G
NG_023231.1:g.14056A>G
NC_000023.11:g.153715691T>C
NC_000023.10:g.152981146T>C
NM_001139441.1:c.194-2A>G
NM_001256447.2:c.194-2A>G
NM_001139457.2:c.395-2A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,715,691 - 153,715,691CLINVAR
GRCh37X152,981,146 - 152,981,146CLINVAR
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: 8573586
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.