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Variant : CV553308 (NM_022137.6(SMOC1):c.709G>T (p.Glu237Ter)) Homo sapiens

Symbol: CV553308
Name: NM_022137.6(SMOC1):c.709G>T (p.Glu237Ter)
Condition: Anophthalmos with limb anomalies [RCV000681564]
Clinical Significance: pathogenic
Last Evaluated: 09/01/2018
Review Status: no assertion criteria provided
Related Genes: SMOC1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NP_001030024.1:p.Glu237Ter
NP_071420.1:p.Glu237Ter
NG_028217.1:g.136402G>T
NC_000014.9:g.70010798G>T
NC_000014.8:g.70477515G>T
NM_001034852.3:c.709G>T
NM_022137.6:c.709G>T
NM_022137.5:c.709G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381470,010,798 - 70,010,798CLINVAR
GRCh371470,477,515 - 70,477,515CLINVAR
Cytogenetic Map1414q24.2CLINVAR
Trait Synonyms: ANOPHTHALMIA-SYNDACTYLY; MICROPHTHALMIA AND LIMB ANOMALIES; MICROPHTHALMIA WITH LIMB ANOMALIES



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13794419
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2019-12-03
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.