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Variant : CV194458 (NM_014780.4(CUL7):c.898_919del22 (p.Met300Trpfs)) Homo sapiens

Symbol: CV194458
Name: NM_014780.4(CUL7):c.898_919del22 (p.Met300Trpfs)
Condition: Three M syndrome 1 [RCV000178294]
Clinical Significance: pathogenic
Last Evaluated: 03/13/2015
Review Status: criteria provided, single submitter
Related Genes: CUL7  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.43051282_43051303del22
NC_000006.11:g.43019020_43019041delGCTCCGAGATCAGGGTGCCCAT
NP_055595.2:p.Met300Trpfs
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,051,282 - 43,051,303CLINVAR
GRCh37643,019,020 - 43,019,041CLINVAR
Cytogenetic Map66p21.1CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10048735
Created: 2015-07-14
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.