Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV507821 (NM_006280.3(SSR4):c.352-13A>G) Homo sapiens

Symbol: CV507821
Name: NM_006280.3(SSR4):c.352-13A>G
Condition: not specified [RCV000603400]
Clinical Significance: likely benign
Last Evaluated: 06/20/2017
Review Status: criteria provided, single submitter
Related Genes: SSR4  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_041795.1:g.8884A>G
NC_000023.11:g.153798058A>G
NC_000023.10:g.153063513A>G
NM_001204526.1:c.385-13A>G
NM_006280.3:c.352-13A>G
NM_001204527.2:c.376-13A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,798,058 - 153,798,058CLINVAR
GRCh37X153,063,513 - 153,063,513CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13525735
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.