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

Variant : CV504021 (NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln)) Homo sapiens

Symbol: CV504021
Name: NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln)
Condition: not specified [RCV000608416]
Clinical Significance: likely benign
Last Evaluated: 12/28/2017
Review Status: criteria provided, single submitter
Related Genes: CLPB  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_042130.1:g.145251G>A
NC_000011.10:g.72294434C>T
NC_000011.9:g.72005478C>T
NP_110440.1:p.Arg554Gln
NP_001245321.1:p.Arg524Gln
LRG_1338t1:c.1571G>A
NM_001258393.3:c.1484G>A
NM_001258394.2:c.1526G>A
NM_001258392.3:c.1571G>A
NM_030813.6:c.1661G>A
LRG_1338:g.145251G>A
NG_042130.2:g.145251G>A
NM_030813.5:c.1661G>A
LRG_1338p1:p.Arg524Gln
NP_001245322.1:p.Arg495Gln
NP_001245323.1:p.Arg509Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,294,434 - 72,294,434CLINVAR
GRCh371172,005,478 - 72,005,478CLINVAR
Cytogenetic Map1111q13.4CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13536032
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

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