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Variant : CV512607 (NM_001256447.2(BCAP31):c.739T>C (p.Ter247Gln)) Homo sapiens

Symbol: CV512607
Name: NM_001256447.2(BCAP31):c.739T>C (p.Ter247Gln)
Condition: Inborn genetic diseases [RCV000622378]
Clinical Significance: uncertain significance
Last Evaluated: 11/09/2017
Review Status: criteria provided, single submitter
Related Genes: BCAP31  
Variant Type: single nucleotide variant (SO:0001578)
Source: CLINVAR
Molecular Consequence: stop lost
Evidence: clinical testing
HGVS Name(s): NG_023231.1:g.28808T>C
NC_000023.11:g.153700939A>G
NP_001132929.1:p.Ter314Gln
NC_000023.10:g.152966394A>G
NM_005745.7:c.739T>C
NP_005736.3:p.Ter247Gln
NM_001139457.2:c.940T>C
NM_001139457.1:c.940T>C
NM_001139441.1:c.739T>C
NM_001256447.2:c.739T>C
NP_001132913.1:p.Ter247Gln
NP_001243376.1:p.Ter247Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,700,939 - 153,700,939CLINVAR
GRCh37X152,966,394 - 152,966,394CLINVAR
Cytogenetic MapXXq28CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13530276
Created: 2018-05-08
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.