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Variant : CV611935 (NM_001256447.2(BCAP31):c.91A>T (p.Arg31Ter)) Homo sapiens

Symbol: CV611935
Name: NM_001256447.2(BCAP31):c.91A>T (p.Arg31Ter)
Condition: not provided [RCV000760960]
Clinical Significance: pathogenic
Last Evaluated: 01/31/2019
Review Status: criteria provided, single submitter
Related Genes: BCAP31  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_001139441.1:c.91A>T
NM_005745.7:c.91A>T
NG_023231.1:g.6593A>T
NC_000023.11:g.153723154T>A
NC_000023.10:g.152988609T>A
NP_001132913.1:p.Arg31Ter
NP_005736.3:p.Arg31Ter
NM_001139457.2:c.292A>T
NM_001256447.2:c.91A>T
NG_009022.2:g.3287T>A
NP_001243376.1:p.Arg31Ter
NP_001132929.1:p.Arg98Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,723,154 - 153,723,154CLINVAR
GRCh37X152,988,609 - 152,988,609CLINVAR
Cytogenetic MapXXq28CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14396220
Created: 2019-04-09
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.