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Variant : CV424210 (NC_012920.1:m.7129_13991del6863) Homo sapiens

Symbol: CV424210
Name: NC_012920.1:m.7129_13991del6863
Condition: Mitochondrial diseases [RCV000495692]
Clinical Significance: pathogenic|likely 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-ND3   MT-ND4   MT-ND4L   MT-ND5   MT-TD   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.7129_13991del
NC_012920.1:m.7129_13991del6863
Position
Human AssemblyChrPosition (strand)Source
GRCh38MT7,129 - 13,991CLINVAR
GRCh37MT7,129 - 13,991CLINVAR
Trait Synonyms: Deafness, autosomal recessive 63



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13207629
Created: 2017-08-08
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.