Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV272596 (NM_014780.4(CUL7):c.4318C>T (p.Arg1440Ter)) Homo sapiens

Symbol: CV272596
Name: NM_014780.4(CUL7):c.4318C>T (p.Arg1440Ter)
Condition: Three M syndrome 1 [RCV000376423]
Clinical Significance: pathogenic
Last Evaluated: 06/15/2016
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.4318C>T
NG_016205.1:g.19982C>T
NC_000006.12:g.43038964G>A
NC_000006.11:g.43006702G>A
NP_055595.2:p.Arg1440Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,038,964 - 43,038,964CLINVAR
GRCh37643,006,702 - 43,006,702CLINVAR
Cytogenetic Map66p21.1CLINVAR
Age Of Onset: infancy



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11581588
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.