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Variant : CV372561 (NM_002496.4(NDUFS8):c.110-11C>T) Homo sapiens

Symbol: CV372561
Name: NM_002496.4(NDUFS8):c.110-11C>T
Condition: not specified [RCV000419159]
Clinical Significance: likely benign
Last Evaluated: 10/20/2017
Review Status: criteria provided, single submitter
Related Genes: MIR7113   NDUFS8  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_002496.4:c.110-11C>T
NR_106963.1:n.49C>T
NG_017040.1:g.7296C>T
NC_000011.10:g.68032912C>T
NC_000011.9:g.67800379C>T
NM_002496.2:c.110-11C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381168,032,912 - 68,032,912CLINVAR
GRCh371167,800,379 - 67,800,379CLINVAR
Cytogenetic Map1111q13.2CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12833773
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-03-24
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.