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Variant : CV264948 (NM_005745.7(BCAP31):c.307_308CT[1] (p.Tyr104fs)) Homo sapiens

Symbol: CV264948
Name: NM_005745.7(BCAP31):c.307_308CT[1] (p.Tyr104fs)
Condition: not provided [RCV000270990]
Clinical Significance: pathogenic
Last Evaluated: 07/14/2016
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_001139441.1:c.309_310delCT
NG_023231.1:g.14171_14172CT[1]
NC_000023.11:g.153715574_153715575GA[1]
NC_000023.10:g.152981029_152981030GA[1]
NP_001132913.1:p.Tyr104fs
NM_005745.7:c.307_308CT[1]
NM_001139457.2:c.508_509CT[1]
NP_001243376.1:p.Tyr104fs
NM_001139441.1:c.307_308CT[1]
NM_001256447.2:c.307_308CT[1]
NP_005736.3:p.Tyr104fs
NP_001132929.1:p.Tyr171fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,715,573 - 153,715,574CLINVAR
GRCh37X152,981,028 - 152,981,029CLINVAR
Cytogenetic MapXXq28CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11632622
Created: 2017-01-11
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.