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Variant : CV231438 (NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp)) Homo sapiens

Symbol: CV231438
Name: NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp)
Condition: not specified [RCV000218026]
Clinical Significance: uncertain significance
Last Evaluated: 05/27/2015
Review Status: criteria provided, single submitter
Related Genes: TSPEAR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_144991.2:c.364C>T
NG_033806.1:g.182716C>T
NC_000021.9:g.44533863G>A
NC_000021.8:g.45953746G>A
NP_659428.2:p.Arg122Trp
NM_001272037.2:c.160C>T
NM_144991.3:c.364C>T
NC_000021.8:g.45953746G>A
NP_001258966.1:p.Arg54Trp
NM_144991.2:c.364C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,533,863 - 44,533,863CLINVAR
GRCh372145,953,746 - 45,953,746CLINVAR
Cytogenetic Map2121q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11092024
Created: 2016-06-07
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.