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Variant : CV71375 (NM_025114.3(CEP290):c.3446_3447delAA (p.Lys1149Serfs)) Homo sapiens

Symbol: CV71375
Name: NM_025114.3(CEP290):c.3446_3447delAA (p.Lys1149Serfs)
Condition: Meckel syndrome type 4 [RCV000050149]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CEP290  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only|not provided
HGVS Name(s): NM_025114.3:c.3446_3447delAA
NC_000012.12:g.88092695_88092696delTT
NC_000012.11:g.88486472_88486473delTT
NP_079390.3:p.Lys1149Serfs
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,092,695 - 88,092,696CLINVAR
GRCh371288,486,472 - 88,486,473CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: MECKEL-GRUBER SYNDROME, TYPE 4
Age Of Onset: antenatal|neonatal/infancy
Prevalence: 1-9 / 100 000|<1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617464
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-07-09
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.