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Variant : CV57126 (NM_001370524.1(TMIE):c.208_210AAG[8] (p.Lys78del)) Homo sapiens

Symbol: CV57126
Name: NM_001370524.1(TMIE):c.208_210AAG[8] (p.Lys78del)
Condition: AllHighlyPenetrant [RCV000041234]|not provided [RCV000755405]|not specified [RCV000041234]
Clinical Significance: benign
Last Evaluated: 05/02/2017
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|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): NP_671729.2:p.Lys131del
NM_147196.2:c.367_369AAG[8]
NM_147196.2:c.391_393delAAG
c.391_393delAAG
NM_001370524.1:c.208_210AAG[8]
NM_001370525.1:c.208_210AAG[8]
NG_011628.1:g.13252_13254AAG[8]
NC_000003.12:g.46709584_46709586AAG[8]
NC_000003.11:g.46751074_46751076AAG[8]
NP_001357453.1:p.Lys78del
NP_001357454.1:p.Lys78del
Position
Human AssemblyChrPosition (strand)Source
GRCh38346,709,584 - 46,709,586CLINVAR
GRCh37346,751,074 - 46,751,076CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8610828
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
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.