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Variant : CV411155 (NM_005745.7(BCAP31):c.341+2T>G) Homo sapiens

Symbol: CV411155
Name: NM_005745.7(BCAP31):c.341+2T>G
Condition: Chromosome Xq28 deletion syndrome [RCV000509475]|not provided [RCV000485079]
Clinical Significance: pathogenic|not provided
Last Evaluated: 09/01/2015
Review Status: criteria provided, single submitter|no assertion provided
Related Genes: BCAP31  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: clinical testing|phenotyping only
HGVS Name(s): NM_001139441.1:c.341+2T>G
NM_005745.7:c.341+2T>G
NG_023231.1:g.14207T>G
NC_000023.11:g.153715540A>C
NC_000023.10:g.152980995A>C
NM_001256447.2:c.341+2T>G
NM_001139457.2:c.542+2T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,715,540 - 153,715,540CLINVAR
GRCh37X152,980,995 - 152,980,995CLINVAR
Cytogenetic MapXXq28CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12895047
Created: 2017-05-09
Species: Homo sapiens
Last Modified: 2019-09-06
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.