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Variant : CV486059 (NM_001258392.3(CLPB):c.1703C>T (p.Thr568Met)) Homo sapiens

Symbol: CV486059
Name: NM_001258392.3(CLPB):c.1703C>T (p.Thr568Met)
Condition: not provided [RCV000585477]
Clinical Significance: uncertain significance
Last Evaluated: 10/31/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: CLPB  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NP_110440.1:p.Thr598Met
NG_042130.1:g.145581C>T
NC_000011.10:g.72294104G>A
NC_000011.9:g.72005148G>A
NP_001245321.1:p.Thr568Met
LRG_1338t1:c.1703C>T
NM_001258393.3:c.1616C>T
NM_001258394.2:c.1658C>T
NM_001258392.3:c.1703C>T
NM_030813.6:c.1793C>T
NG_042130.2:g.145581C>T
LRG_1338p1:p.Thr568Met
NP_001245323.1:p.Thr553Met
LRG_1338:g.145581C>T
NP_001245322.1:p.Thr539Met
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,294,104 - 72,294,104CLINVAR
GRCh371172,005,148 - 72,005,148CLINVAR
Cytogenetic Map1111q13.4CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13519216
Created: 2018-04-10
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.