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Variant : CV371706 (NM_001258392.3(CLPB):c.1122+16T>C) Homo sapiens

Symbol: CV371706
Name: NM_001258392.3(CLPB):c.1122+16T>C
Condition: not specified [RCV000440166]
Clinical Significance: likely benign
Last Evaluated: 02/22/2018
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): NG_042130.1:g.132502T>C
NC_000011.10:g.72307183A>G
NC_000011.9:g.72018227A>G
LRG_1338t1:c.1122+16T>C
NM_001258394.2:c.1077+16T>C
NM_001258392.3:c.1122+16T>C
NM_030813.6:c.1212+16T>C
LRG_1338:g.132502T>C
NG_042130.2:g.132502T>C
NM_030813.5:c.1212+16T>C
NM_001258393.3:c.1035+16T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,307,183 - 72,307,183CLINVAR
GRCh371172,018,227 - 72,018,227CLINVAR
Cytogenetic Map1111q13.4CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12845626
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.