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Variant : CV266538 (NM_014780.4(CUL7):c.2164C>T (p.Arg722Ter)) Homo sapiens

Symbol: CV266538
Name: NM_014780.4(CUL7):c.2164C>T (p.Arg722Ter)
Condition: Three M syndrome 1 [RCV000385356]
Clinical Significance: pathogenic
Last Evaluated: 09/09/2015
Review Status: criteria provided, single submitter
Related Genes: CUL7  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_014780.4:c.2164C>T
NG_016205.1:g.10793C>T
NC_000006.12:g.43048153G>A
NC_000006.11:g.43015891G>A
NP_055595.2:p.Arg722Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,048,153 - 43,048,153CLINVAR
GRCh37643,015,891 - 43,015,891CLINVAR
Cytogenetic Map66p21.1CLINVAR
Age Of Onset: infancy



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11633989
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-08-06
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.