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Variant : CV360531 (NM_001204527.2(SSR4):c.445A>G (p.Thr149Ala)) Homo sapiens

Symbol: CV360531
Name: NM_001204527.2(SSR4):c.445A>G (p.Thr149Ala)
Condition: not specified [RCV000414365]
Clinical Significance: uncertain significance
Last Evaluated: 12/02/2016
Review Status: criteria provided, single submitter
Related Genes: SSR4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001204526.1:c.454A>G
NG_041795.1:g.9158A>G
NC_000023.11:g.153798332A>G
NC_000023.10:g.153063787A>G
NR_037927.1:n.766A>G
NP_001191456.1:p.Thr149Ala
NP_001191455.1:p.Thr152Ala
NM_006280.3:c.421A>G
NM_001204527.2:c.445A>G
NP_006271.1:p.Thr141Ala
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,798,332 - 153,798,332CLINVAR
GRCh37X153,063,787 - 153,063,787CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12741191
Created: 2017-02-07
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.