Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV237028 (NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met)) Homo sapiens

Symbol: CV237028
Name: NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met)
Condition: not provided [RCV000224145]
Clinical Significance: benign|conflicting interpretations of pathogenicity
Last Evaluated: 02/28/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, single submitter
Related Genes: BCAP31  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_005745.7:c.383C>T
NG_023231.1:g.25694C>T
NC_000023.11:g.153704053G>A
NC_000023.10:g.152969508G>A
NP_005736.3:p.Thr128Met
NM_001139441.1:c.383C>T
NM_001256447.2:c.383C>T
NM_001139457.2:c.584C>T
NP_001132913.1:p.Thr128Met
NP_001243376.1:p.Thr128Met
NP_001132929.1:p.Thr195Met
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,704,053 - 153,704,053CLINVAR
GRCh37X152,969,508 - 152,969,508 (+)CLINVAR
Cytogenetic MapXXq28CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11350651
Created: 2016-07-12
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.