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Variant : CV231324 (NM_144991.3(TSPEAR):c.702C>T (p.Asn234=)) Homo sapiens

Symbol: CV231324
Name: NM_144991.3(TSPEAR):c.702C>T (p.Asn234=)
Condition: not specified [RCV000214464]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 09/15/2017
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|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_001272037.2:c.498C>T
NM_144991.3:c.702C>T
NC_000021.8:g.45949769G>A
NM_144991.2:c.702C>T
NP_001258966.1:p.Asn166=
NM_144991.2:c.702C>T
NG_033806.1:g.186693C>T
NC_000021.9:g.44529886G>A
NC_000021.8:g.45949769G>A
p.Asn234Asn
NP_659428.2:p.Asn234=
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,529,886 - 44,529,886CLINVAR
GRCh372145,949,769 - 45,949,769CLINVAR
Cytogenetic Map2121q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11089162
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.