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

Variant : CV302993 (NM_014780.4(CUL7):c.-300G>C) Homo sapiens

Symbol: CV302993
Name: NM_014780.4(CUL7):c.-300G>C
Condition: Three M syndrome [RCV000327528]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CUL7  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_014780.4:c.-300G>C
NG_016205.1:g.5033G>C
NC_000006.12:g.43053913C>G
NC_000006.11:g.43021651C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,053,913 - 43,053,913CLINVAR
GRCh37643,021,651 - 43,021,651CLINVAR
Cytogenetic Map66p21.1CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11591304
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.