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Variant : CV656384 (NM_032382.4(COG8):c.33C>A (p.Ala11=)) Homo sapiens

Symbol: CV656384
Name: NM_032382.4(COG8):c.33C>A (p.Ala11=)
Condition: not provided [RCV000836119]
Clinical Significance: likely benign
Last Evaluated: 04/10/2018
Review Status: criteria provided, single submitter
Related Genes: COG8   NIP7  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NP_115758.3:p.Ala11=
NM_001199434.1:c.-310G>T
NM_032382.4:c.33C>A
NG_009013.1:g.5104C>A
NC_000016.10:g.69339520G>T
NC_000016.9:g.69373423G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381669,339,520 - 69,339,520CLINVAR
GRCh371669,373,423 - 69,373,423CLINVAR
Cytogenetic Map1616q22.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14731425
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-01-07
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.