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Variant : CV790778 (NM_014751.5(MTSS1):c.1036-28C>T) Homo sapiens

Symbol: CV790778
Name: NM_014751.5(MTSS1):c.1036-28C>T
Condition: Mitochondrial complex 1 deficiency, nuclear type 24 [RCV000988114]
Clinical Significance: benign
Last Evaluated: 05/28/2019
Review Status: criteria provided, single submitter
Related Genes: MTSS1   NDUFB9  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001363294.1:c.1033-28C>T
NM_001363300.1:c.1036-1498C>T
NM_001363301.1:c.1033-1498C>T
NM_014751.5:c.1036-28C>T
NM_001282974.1:c.1155+810C>T
NM_001363297.1:c.1164+810C>T
NM_001363296.1:c.1167+810C>T
NC_000008.11:g.124557903G>A
NC_000008.10:g.125570144G>A
NM_001363302.1:c.1036-1549C>T
NM_001363295.1:c.1036-28C>T
NM_001363299.1:c.1048-1498C>T
NM_001282971.1:c.1048-28C>T
NM_001363298.1:c.1152+810C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh388124,557,903 - 124,557,903CLINVAR
GRCh378125,570,144 - 125,570,144CLINVAR
Cytogenetic Map88q24.13CLINVAR
Trait Synonyms: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 21071763
Created: 2020-02-11
Species: Homo sapiens
Last Modified: 2020-09-22
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.