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Variant : CV390357 (NM_004758.4(TSPOAP1):c.236G>A (p.Gly79Glu)) Homo sapiens

Symbol: CV390357
Name: NM_004758.4(TSPOAP1):c.236G>A (p.Gly79Glu)
Condition: not specified [RCV000455550]
Clinical Significance: benign
Last Evaluated: 03/29/2016
Review Status: criteria provided, single submitter
Related Genes: TSPOAP1   TSPOAP1-AS1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_024418.3:c.236G>A
NC_000017.11:g.58327685C>T
NC_000017.10:g.56405046C>T
NP_004749.2:p.Gly79Glu
NM_001261835.2:c.236G>A
NP_001248764.1:p.Gly79Glu
NM_004758.4:c.236G>A
NM_004758.3:c.236G>A
NP_077729.1:p.Gly79Glu
Position
Human AssemblyChrPosition (strand)Source
GRCh381758,327,685 - 58,327,685CLINVAR
GRCh371756,405,046 - 56,405,046CLINVAR
Cytogenetic Map1717q22CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12896585
Created: 2017-05-09
Species: Homo sapiens
Last Modified: 2020-02-04
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.