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

Variant : CV508542 (NM_001204527.2(SSR4):c.92-5C>T) Homo sapiens

Symbol: CV508542
Name: NM_001204527.2(SSR4):c.92-5C>T
Condition: not specified [RCV000604921]
Clinical Significance: likely benign
Last Evaluated: 03/12/2018
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.7255C>T
NM_001204526.1:c.101-5C>T
NC_000023.11:g.153796429C>T
NC_000023.10:g.153061884C>T
NM_006280.3:c.68-5C>T
NM_001204527.2:c.92-5C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,796,429 - 153,796,429CLINVAR
GRCh37X153,061,884 - 153,061,884CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13527033
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2019-09-17
Status: ACTIVE



NHLBI Logo

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