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Variant : CV590805 (NM_001256447.2(BCAP31):c.517G>T (p.Ala173Ser)) Homo sapiens

Symbol: CV590805
Name: NM_001256447.2(BCAP31):c.517G>T (p.Ala173Ser)
Condition: not specified [RCV000736067]
Clinical Significance: likely benign
Last Evaluated: 11/20/2017
Review Status: 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_001139457.2:c.718G>T
NC_000023.11:g.153703019C>A
NP_001132929.1:p.Ala240Ser
NC_000023.10:g.152968474C>A
NM_005745.7:c.517G>T
NG_023231.1:g.26728G>T
NP_005736.3:p.Ala173Ser
NM_001139441.1:c.517G>T
NM_001256447.2:c.517G>T
NP_001132913.1:p.Ala173Ser
NP_001243376.1:p.Ala173Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,703,019 - 153,703,019CLINVAR
GRCh37X152,968,474 - 152,968,474CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14349878
Created: 2019-02-12
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.