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Variant : CV16658 (NM_014780.4(CUL7):c.1570-3C>A) Homo sapiens

Symbol: CV16658
Name: NM_014780.4(CUL7):c.1570-3C>A
Condition: Three M syndrome 1 [RCV000001686]
Clinical Significance: pathogenic
Last Evaluated: 02/11/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CUL7  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Nucleotide Change: ivs6as, c-a, -3
Evidence: literature only
HGVS Name(s): NM_014780.4:c.1570-3C>A
NG_016205.1:g.9281C>A
NC_000006.12:g.43049665G>T
NC_000006.11:g.43017403G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38643,049,665 - 43,049,665CLINVAR
GRCh37643,017,403 - 43,017,403CLINVAR
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: 8556356
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.