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Variant : CV424209 (NC_012920.1:m.6469_15587del9119) Homo sapiens

Symbol: CV424209
Name: NC_012920.1:m.6469_15587del9119
Condition: Mitochondrial diseases [RCV000495334]
Clinical Significance: pathogenic
Last Evaluated: 05/22/2017
Review Status: no assertion criteria provided
Related Genes: MT-ATP6   MT-ATP8   MT-CO1   MT-CO2   MT-CO3   MT-CYB   MT-ND3   MT-ND4   MT-ND4L   MT-ND5   MT-ND6   MT-TD   MT-TE   MT-TG   MT-TH   MT-TK   MT-TL2   MT-TR   MT-TS1   MT-TS2  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_012920.1:m.6469_15587del
NC_012920.1:m.6469_15587del9119
Position
Human AssemblyChrPosition (strand)Source
GRCh38MT6,469 - 15,587CLINVAR
GRCh37MT6,469 - 15,587CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13207622
Created: 2017-08-08
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.