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Variant : CV497830 (NM_144991.3(TSPEAR):c.942C>T (p.Tyr314=)) Homo sapiens

Symbol: CV497830
Name: NM_144991.3(TSPEAR):c.942C>T (p.Tyr314=)
Condition: not specified [RCV000614010]
Clinical Significance: likely benign
Last Evaluated: 06/06/2017
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.942C>T
NG_033806.1:g.189080C>T
NC_000021.9:g.44527499G>A
NC_000021.8:g.45947382G>A
p.Tyr314Tyr
NP_659428.2:p.Tyr314=
NM_001272037.2:c.738C>T
NM_144991.3:c.942C>T
NC_000021.8:g.45947382G>A
NM_144991.2:c.942C>T
NP_001258966.1:p.Tyr246=
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,527,499 - 44,527,499CLINVAR
GRCh372145,947,382 - 45,947,382CLINVAR
Cytogenetic Map2121q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13539959
Created: 2018-05-08
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.