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Variant : CV701635 (NM_001098169.2(BSX):c.693C>A (p.His231Gln)) Homo sapiens

Symbol: CV701635
Name: NM_001098169.2(BSX):c.693C>A (p.His231Gln)
Condition: not provided [RCV000947395]
Clinical Significance: benign
Last Evaluated: 06/12/2018
Review Status: criteria provided, single submitter
Related Genes: BSX  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001098169.2:c.693C>A
NC_000011.10:g.122977658G>T
NC_000011.9:g.122848366G>T
NM_001098169.1:c.693C>A
NP_001091639.1:p.His231Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh3811122,977,658 - 122,977,658CLINVAR
GRCh3711122,848,366 - 122,848,366CLINVAR
Cytogenetic Map1111q24.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15160013
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-07-28
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.