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Variant : CV39685 (NM_022137.6(SMOC1):c.378+1G>A) Homo sapiens

Symbol: CV39685
Name: NM_022137.6(SMOC1):c.378+1G>A
Condition: Anophthalmos with limb anomalies [RCV000023706]
Clinical Significance: pathogenic
Last Evaluated: 02/21/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: SMOC1  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Nucleotide Change: ivs3, g-a, +1
Evidence: literature only
HGVS Name(s): NM_001034852.3:c.378+1G>A
NM_022137.6:c.378+1G>A
NG_028217.1:g.79137G>A
NC_000014.9:g.69953533G>A
NC_000014.8:g.70420250G>A
NM_001034852.2:c.378+1G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381469,953,533 - 69,953,533CLINVAR
GRCh371470,420,250 - 70,420,250CLINVAR
Cytogenetic Map1414q24.2CLINVAR
Trait Synonyms: ANOPHTHALMIA-SYNDACTYLY; MICROPHTHALMIA AND LIMB ANOMALIES; MICROPHTHALMIA WITH LIMB ANOMALIES
Age Of Onset: antenatal|neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8568545
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.