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Variant : CV361238 (NM_005745.7(BCAP31):c.-44-270C>A) Homo sapiens

Symbol: CV361238
Name: NM_005745.7(BCAP31):c.-44-270C>A
Condition: Chromosome Xq28 deletion syndrome [RCV000415452]
Clinical Significance: pathogenic
Last Evaluated: 06/17/2014
Review Status: no assertion criteria provided
Related Genes: BCAP31  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_005745.7:c.-44-270C>A
NM_001139457.2:c.107C>A
NG_023231.1:g.6189C>A
NC_000023.11:g.153723558G>T
NC_000023.10:g.152989013G>T
NP_001132929.1:p.Ser36Ter
NM_001139441.1:c.-44-270C>A
NM_001256447.2:c.-44-270C>A
NG_009022.2:g.3691G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,723,558 - 153,723,558CLINVAR
GRCh37X152,989,013 - 152,989,013CLINVAR
Cytogenetic MapXXq28CLINVAR
Age Of Onset: infancy
Prevalence: <1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12741940
Created: 2017-02-07
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.