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Variant : CV500836 (NM_147196.2(TMIE):c.367_369AAG[11] (p.Lys130_Lys131dup)) Homo sapiens

Symbol: CV500836
Name: NM_147196.2(TMIE):c.367_369AAG[11] (p.Lys130_Lys131dup)
Condition: not specified [RCV000604452]
Clinical Significance: likely benign
Last Evaluated: 02/12/2018
Review Status: criteria provided, single submitter
Related Genes: TMIE  
Variant Type: microsatellite (SO:0001821)
Source: CLINVAR
Molecular Consequence: inframe_insertion
Evidence: clinical testing
HGVS Name(s): NG_011628.1:g.13252_13254AAG[11]
NC_000003.12:g.46709584_46709586AAG[11]
NC_000003.11:g.46751074_46751076AAG[11]
NP_671729.2:p.Lys130_Lys131dup
NP_001357453.1:p.Lys77_Lys78dup
NP_001357454.1:p.Lys77_Lys78dup
NM_001370524.1:c.208_210AAG[11]
NM_001370525.1:c.208_210AAG[11]
NM_147196.2:c.367_369AAG[11]
Position
Human AssemblyChrPosition (strand)Source
GRCh38346,709,583 - 46,709,584CLINVAR
GRCh37346,751,073 - 46,751,074CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13526675
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2020-02-11
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.