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Variant : CV251169 (NM_001370524.1(TMIE):c.208_210AAG[7] (p.Lys77_Lys78del)) Homo sapiens

Symbol: CV251169
Name: NM_001370524.1(TMIE):c.208_210AAG[7] (p.Lys77_Lys78del)
Condition: not specified [RCV000253873]
Clinical Significance: likely benign
Last Evaluated:
Review Status: criteria provided, single submitter
Related Genes: TMIE  
Variant Type: microsatellite (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion|inframe_variant
Evidence: clinical testing
HGVS Name(s): NM_147196.2:c.367_369AAG[7]
NM_147196.2:c.388_393delAAGAAG
NP_671729.2:p.Lys130_Lys131del
NG_011628.1:g.13252_13254AAG[7]
NC_000003.12:g.46709584_46709586AAG[7]
NC_000003.11:g.46751074_46751076AAG[7]
NP_001357453.1:p.Lys77_Lys78del
NP_001357454.1:p.Lys77_Lys78del
NM_001370524.1:c.208_210AAG[7]
NM_001370525.1:c.208_210AAG[7]
Position
Human AssemblyChrPosition (strand)Source
GRCh38346,709,584 - 46,709,589CLINVAR
GRCh37346,751,074 - 46,751,079CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11552055
Created: 2016-10-11
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.