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Variant : CV625967 (NC_012920.1:m.8350_13450del) Homo sapiens

Symbol: CV625967
Name: NC_012920.1:m.8350_13450del
Condition: Pearson marrow-pancreas syndrome [RCV000790615]
Clinical Significance: pathogenic
Last Evaluated: 06/12/2019
Review Status: no assertion criteria provided
Related Genes: MT-ATP6   MT-ATP8   MT-CO3   MT-ND3   MT-ND4   MT-ND4L   MT-ND5   MT-TG   MT-TH   MT-TK   MT-TL2   MT-TR   MT-TS2  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_012920.1:m.8350_13450del
Human AssemblyChrPosition (strand)Source
GRCh38MT8,350 - 13,450CLINVAR
GRCh37MT8,350 - 13,450CLINVAR
Trait Synonyms: Pearson's syndrome

Disease Annotations

Additional Information

External Database Links
RGD Object Information
RGD ID: 14697869
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.