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Variant : CV666184 (NM_001258392.3(CLPB):c.1067-174G>A) Homo sapiens

Symbol: CV666184
Name: NM_001258392.3(CLPB):c.1067-174G>A
Condition: not provided [RCV000831770]
Clinical Significance: benign
Last Evaluated: 06/14/2018
Review Status: criteria provided, single submitter
Related Genes: CLPB  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001258394.2:c.1022-174G>A
NM_001258392.3:c.1067-174G>A
NM_030813.6:c.1157-174G>A
NM_001258393.3:c.980-174G>A
NG_042130.1:g.132257G>A
NG_042130.2:g.132257G>A
NC_000011.10:g.72307428C>T
NC_000011.9:g.72018472C>T
NM_030813.5:c.1157-174G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,307,428 - 72,307,428CLINVAR
GRCh371172,018,472 - 72,018,472CLINVAR
Cytogenetic Map1111q13.4CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14721664
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2019-11-12
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.