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Variant : CV243827 (NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)) Homo sapiens

Symbol: CV243827
Name: NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)
Condition: Cerebral palsy [RCV000234930]|Cerebral palsy, spastic quadriplegic, 3 [RCV000231295]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 07/23/2019
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: ADD3  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only|research
HGVS Name(s): NM_016824.3:c.1100G>A
NC_000010.11:g.110122249G>A
NC_000010.10:g.111882007G>A
NP_001307520.1:p.Gly367Asp
NP_058432.1:p.Gly367Asp
NG_051033.1:g.130900G>A
Q9UEY8:p.Gly367Asp
NM_001121.4:c.1100G>A
NM_001320591.2:c.1100G>A
NM_001320592.2:c.1100G>A
NM_001320593.2:c.1100G>A
NM_016824.5:c.1100G>A
NM_019903.5:c.1100G>A
NM_001320594.2:c.866G>A
NM_016824.4:c.1100G>A
NP_001307523.1:p.Gly289Asp
NP_001112.2:p.Gly367Asp
NP_001307521.1:p.Gly367Asp
NP_001307522.1:p.Gly367Asp
NP_063968.1:p.Gly367Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh3810110,122,249 - 110,122,249CLINVAR
GRCh3710111,882,007 - 111,882,007CLINVAR
Cytogenetic Map1010q25.2CLINVAR
Trait Synonyms: Cerebral paralysis
Age Of Onset: infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11351852
Created: 2016-07-12
Species: Homo sapiens
Last Modified: 2020-09-29
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.