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Variant : CV374308 (NM_001258392.3(CLPB):c.1680+7G>A) Homo sapiens

Symbol: CV374308
Name: NM_001258392.3(CLPB):c.1680+7G>A
Condition: not specified [RCV000433896]
Clinical Significance: likely benign
Last Evaluated: 01/10/2017
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): NG_042130.1:g.145367G>A
NC_000011.10:g.72294318C>T
NC_000011.9:g.72005362C>T
LRG_1338t1:c.1680+7G>A
NM_001258393.3:c.1593+7G>A
NM_001258394.2:c.1635+7G>A
NM_001258392.3:c.1680+7G>A
NM_030813.6:c.1770+7G>A
LRG_1338:g.145367G>A
NG_042130.2:g.145367G>A
NM_030813.5:c.1770+7G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,294,318 - 72,294,318CLINVAR
GRCh371172,005,362 - 72,005,362CLINVAR
Cytogenetic Map1111q13.4CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12842148
Created: 2017-04-11
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.