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Variant : CV503785 (NM_001258392.3(CLPB):c.966C>T (p.Ser322=)) Homo sapiens

Symbol: CV503785
Name: NM_001258392.3(CLPB):c.966C>T (p.Ser322=)
Condition: not specified [RCV000605511]
Clinical Significance: likely benign
Last Evaluated: 01/08/2018
Review Status: criteria provided, single submitter
Related Genes: CLPB  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.72317128G>A
NC_000011.9:g.72028172G>A
NP_110440.1:p.Ser352=
LRG_1338t1:c.966C>T
NG_042130.2:g.122557C>T
NM_030813.5:c.1056C>T
NG_042130.1:g.122557C>T
NP_001245321.1:p.Ser322=
LRG_1338p1:p.Ser322=
NP_001245322.1:p.Ser293=
NP_001245323.1:p.Ser307=
NM_030813.6:c.1056C>T
NM_001258393.3:c.879C>T
NM_001258394.2:c.921C>T
NM_001258392.3:c.966C>T
LRG_1338:g.122557C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381172,317,128 - 72,317,128CLINVAR
GRCh371172,028,172 - 72,028,172CLINVAR
Cytogenetic Map1111q13.4CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13528609
Created: 2018-05-08
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.