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Variant : CV724271 (NM_001098169.2(BSX):c.690G>T (p.Pro230=)) Homo sapiens

Symbol: CV724271
Name: NM_001098169.2(BSX):c.690G>T (p.Pro230=)
Condition: not provided [RCV000889698]
Clinical Significance: benign
Last Evaluated: 06/14/2018
Review Status: criteria provided, single submitter
Related Genes: BSX  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001098169.2:c.690G>T
NC_000011.10:g.122977661C>A
NC_000011.9:g.122848369C>A
NM_001098169.1:c.690G>T
NP_001091639.1:p.Pro230=
Position
Human AssemblyChrPosition (strand)Source
GRCh3811122,977,661 - 122,977,661CLINVAR
GRCh3711122,848,369 - 122,848,369CLINVAR
Cytogenetic Map1111q24.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15196146
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-08-04
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.