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Variant : CV612275 (NM_014780.4(CUL7):c.4406A>G (p.Gln1469Arg)) Homo sapiens

Symbol: CV612275
Name: NM_014780.4(CUL7):c.4406A>G (p.Gln1469Arg)
Condition: Three M syndrome 1 [RCV000761425]
Clinical Significance: uncertain significance
Last Evaluated: 12/30/2017
Review Status: no assertion criteria provided
Related Genes: CUL7  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Evidence: curation
HGVS Name(s): NM_014780.4:c.4406A>G
NG_016205.1:g.20070A>G
NC_000006.12:g.43038876T>C
NC_000006.11:g.43006614T>C
NP_055595.2:p.Gln1469Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,038,876 - 43,038,876CLINVAR
GRCh37643,006,614 - 43,006,614CLINVAR
Cytogenetic Map66p21.1CLINVAR
Trait Synonyms: 3M SYNDROME; GLOOMY FACE SYNDROME



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14396463
Created: 2019-04-09
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.