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Variant : CV307625 (NM_014780.4(CUL7):c.3096C>T (p.Asp1032=)) Homo sapiens

Symbol: CV307625
Name: NM_014780.4(CUL7):c.3096C>T (p.Asp1032=)
Condition: Three M syndrome [RCV000264677]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: CUL7  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NC_000006.11:g.43012566G>A
NP_055595.2:p.Asp1032=
NM_014780.4:c.3096C>T
NG_016205.1:g.14118C>T
NC_000006.12:g.43044828G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,044,828 - 43,044,828CLINVAR
GRCh37643,012,566 - 43,012,566CLINVAR
Cytogenetic Map66p21.1CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11599306
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.