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Variant : CV307667 (NM_014780.4(CUL7):c.-168C>T) Homo sapiens

Symbol: CV307667
Name: NM_014780.4(CUL7):c.-168C>T
Condition: Three M syndrome [RCV000370251]
Clinical Significance: likely benign
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.-168C>T
NM_001168370.1:c.78C>T
NG_016205.1:g.5165C>T
NC_000006.12:g.43053781G>A
NC_000006.11:g.43021519G>A
NP_001161842.1:p.Arg26=
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,053,781 - 43,053,781CLINVAR
GRCh37643,021,519 - 43,021,519CLINVAR
Cytogenetic Map66p21.1CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11609570
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.