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

Variant : CV379092 (NM_001204527.2(SSR4):c.144C>T (p.Asp48=)) Homo sapiens

Symbol: CV379092
Name: NM_001204527.2(SSR4):c.144C>T (p.Asp48=)
Condition: not specified [RCV000422676]
Clinical Significance: likely benign
Last Evaluated: 05/04/2017
Review Status: criteria provided, single submitter
Related Genes: SSR4  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001204526.1:c.153C>T
NG_041795.1:g.7312C>T
NC_000023.11:g.153796486C>T
NC_000023.10:g.153061941C>T
NP_001191456.1:p.Asp48=
NP_001191455.1:p.Asp51=
NM_006280.3:c.120C>T
NM_001204527.2:c.144C>T
NR_037927.1:n.465C>T
NP_006271.1:p.Asp40=
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,796,486 - 153,796,486CLINVAR
GRCh37X153,061,941 - 153,061,941CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12836016
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-09-06
Status: ACTIVE



NHLBI Logo

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