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Variant : CV231433 (NM_144991.3(TSPEAR):c.1335A>G (p.Glu445=)) Homo sapiens

Symbol: CV231433
Name: NM_144991.3(TSPEAR):c.1335A>G (p.Glu445=)
Condition: not specified [RCV000220283]
Clinical Significance: uncertain significance
Last Evaluated: 08/03/2017
Review Status: criteria provided, single submitter
Related Genes: TSPEAR  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_144991.2:c.1335A>G
NG_033806.1:g.190925A>G
NC_000021.9:g.44525654T>C
NC_000021.8:g.45945537T>C
p.Glu445Glu
NP_659428.2:p.Glu445=
NM_001272037.2:c.1131A>G
NM_144991.3:c.1335A>G
NC_000021.8:g.45945537T>C
NM_144991.2:c.1335A>G
NP_001258966.1:p.Glu377=
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,525,654 - 44,525,654CLINVAR
GRCh372145,945,537 - 45,945,537CLINVAR
Cytogenetic Map2121q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11093836
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.