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Variant : CV215391 (NM_004435.2(ENDOG):c.889_892del (p.Lys297fs)) Homo sapiens

Symbol: CV215391
Name: NM_004435.2(ENDOG):c.889_892del (p.Lys297fs)
Condition: not specified [RCV000202798]
Clinical Significance: benign
Last Evaluated: 06/17/2015
Review Status: criteria provided, single submitter
Related Genes: ENDOG   SPOUT1  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant|frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_016390.4:c.*160_*163del
NM_004435.2:c.889_892del
NG_046991.1:g.9195_9198del
NC_000009.12:g.128822605_128822608del
NC_000009.11:g.131584884_131584887del
NP_004426.2:p.Lys297fs
NM_004435.2:c.889_892delAAGT
Position
Human AssemblyChrPosition (strand)Source
GRCh389128,822,605 - 128,822,608CLINVAR
GRCh379131,584,884 - 131,584,887CLINVAR
Cytogenetic Map99q34.11CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10450157
Created: 2016-01-12
Species: Homo sapiens
Last Modified: 2020-02-04
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.