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Variant : CV665836 (NM_001258392.3(CLPB):c.1329+165T>C) Homo sapiens

Symbol: CV665836
Name: NM_001258392.3(CLPB):c.1329+165T>C
Condition: not provided [RCV000844049]
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_001258393.3:c.1242+165T>C
NM_001258394.2:c.1284+165T>C
NM_001258392.3:c.1329+165T>C
NM_030813.6:c.1419+165T>C
NG_042130.1:g.138047T>C
NG_042130.2:g.138047T>C
NC_000011.10:g.72301638A>G
NC_000011.9:g.72012682A>G
NM_030813.5:c.1419+165T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,301,638 - 72,301,638CLINVAR
GRCh371172,012,682 - 72,012,682CLINVAR
Cytogenetic Map1111q13.4CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14746072
Created: 2019-09-06
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.