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Variant : CV231372 (NM_144991.3(TSPEAR):c.1338C>A (p.Gly446=)) Homo sapiens

Symbol: CV231372
Name: NM_144991.3(TSPEAR):c.1338C>A (p.Gly446=)
Condition: not specified [RCV000223011]
Clinical Significance: likely benign
Last Evaluated: 04/07/2016
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.1338C>A
NG_033806.1:g.194468C>A
NC_000021.9:g.44522111G>T
NC_000021.8:g.45941994G>T
p.Gly446Gly
NP_659428.2:p.Gly446=
NM_001272037.2:c.1134C>A
NM_144991.3:c.1338C>A
NC_000021.8:g.45941994G>T
NM_144991.2:c.1338C>A
NP_001258966.1:p.Gly378=
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,522,111 - 44,522,111CLINVAR
GRCh372145,941,994 - 45,941,994CLINVAR
Cytogenetic Map2121q22.3CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11095985
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.