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Variant : CV16654 (NM_014780.4(CUL7):c.4451_4452del (p.Val1484Glyfs)) Homo sapiens

Symbol: CV16654
Name: NM_014780.4(CUL7):c.4451_4452del (p.Val1484Glyfs)
Condition: Three M syndrome 1 [RCV000001682]
Clinical Significance: pathogenic
Last Evaluated: 02/11/2015
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: CUL7  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): NC_000006.12:g.43038681_43038682delCA
NC_000006.11:g.43006419_43006420delCA
NP_055595.2:p.Val1484Glyfs
NM_014780.4:c.4451_4452del
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,038,681 - 43,038,682CLINVAR
GRCh37643,006,419 - 43,006,420CLINVAR
Cytogenetic Map66p21.1CLINVAR
Trait Synonyms: 3M SYNDROME; GLOOMY FACE SYNDROME
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8556352
Created: 2014-05-13
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.