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

Variant : CV481342 (NM_005745.7(BCAP31):c.363_364TC[1] (p.Leu122fs)) Homo sapiens

Symbol: CV481342
Name: NM_005745.7(BCAP31):c.363_364TC[1] (p.Leu122fs)
Condition: Chromosome Xq28 deletion syndrome [RCV000578429]
Clinical Significance: pathogenic
Last Evaluated: 09/08/2017
Review Status: criteria provided, single submitter
Related Genes: BCAP31  
Variant Type: microsatellite (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_005745.7:c.363_364TC[1]
NM_001139457.2:c.564_565TC[1]
NG_023231.1:g.25674_25675TC[1]
NM_001139441.1:c.363_364TC[1]
NM_001256447.2:c.363_364TC[1]
NC_000023.11:g.153704071_153704072AG[1]
NC_000023.10:g.152969526_152969527AG[1]
NP_001132913.1:p.Leu122fs
NP_001243376.1:p.Leu122fs
NP_005736.3:p.Leu122fs
NP_001132929.1:p.Leu189fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,704,070 - 153,704,071CLINVAR
GRCh37X152,969,525 - 152,969,526CLINVAR
Cytogenetic MapXXq28CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13509384
Created: 2018-03-06
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.