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Variant : CV504411 (NM_001370595.1(COA8):c.123+6C>T) Homo sapiens

Symbol: CV504411
Name: NM_001370595.1(COA8):c.123+6C>T
Condition: not specified [RCV000603565]
Clinical Significance: likely benign
Last Evaluated: 01/11/2018
Review Status: criteria provided, single submitter
Related Genes: COA8  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.103563130C>T
NC_000014.8:g.104029467C>T
NG_041786.1:g.5174C>T
NM_032374.4:c.162+6C>T
NM_001302652.2:c.123+6C>T
NM_001302653.2:c.123+6C>T
NM_001302654.2:c.123+6C>T
NM_001370595.1:c.123+6C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3814103,563,130 - 103,563,130CLINVAR
GRCh3714104,029,467 - 104,029,467CLINVAR
Cytogenetic Map1414q32.33CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13525949
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2019-12-03
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.