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Variant : CV302976 (NM_014780.4(CUL7):c.3416T>C (p.Ile1139Thr)) Homo sapiens

Symbol: CV302976
Name: NM_014780.4(CUL7):c.3416T>C (p.Ile1139Thr)
Condition: Three M syndrome [RCV000323508]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CUL7  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_014780.4:c.3416T>C
NG_016205.1:g.15826T>C
NC_000006.12:g.43043120A>G
NC_000006.11:g.43010858A>G
NP_055595.2:p.Ile1139Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,043,120 - 43,043,120CLINVAR
GRCh37643,010,858 - 43,010,858CLINVAR
Cytogenetic Map66p21.1CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11590903
Created: 2017-01-11
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.