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Variant : CV71370 (NM_025114.3(CEP290):c.180+2T>A) Homo sapiens

Symbol: CV71370
Name: NM_025114.3(CEP290):c.180+2T>A
Condition: Meckel syndrome type 4 [RCV000050144]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice-5|splice donor variant|2kb upstream variant
Evidence: literature only|not provided
HGVS Name(s): NM_025114.3:c.180+2T>A
NG_008417.1:g.6263T>A
NC_000012.12:g.88140954A>T
NC_000012.11:g.88534731A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,140,954 - 88,140,954CLINVAR
GRCh371288,534,731 - 88,534,731CLINVAR
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: 8617459
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.