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Variant : CV361084 (NM_005745.7(BCAP31):c.119T>C (p.Leu40Pro)) Homo sapiens

Symbol: CV361084
Name: NM_005745.7(BCAP31):c.119T>C (p.Leu40Pro)
Condition: Global developmental delay [RCV000415173]|Seizures [RCV000415173]
Clinical Significance: uncertain significance
Last Evaluated: 01/27/2015
Review Status: criteria provided, single submitter
Related Genes: BCAP31  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001139457.2:c.320T>C
NG_009022.2:g.1079A>G
NP_001132929.1:p.Leu107Pro
NP_001132913.1:p.Leu40Pro
NP_001243376.1:p.Leu40Pro
NM_001139441.1:c.119T>C
NM_005745.7:c.119T>C
NG_023231.1:g.8801T>C
NC_000023.11:g.153720946A>G
NC_000023.10:g.152986401A>G
NP_005736.3:p.Leu40Pro
NM_001256447.2:c.119T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X153,720,946 - 153,720,946CLINVAR
GRCh37X152,986,401 - 152,986,401CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: Cognitive delay; Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay in early childhood; Developmental retardation; Epilepsy; Lack of psychomotor development; Mental and motor retardation; Motor and developmental delay; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Psychomotor retardation; Retarded development; Retarded mental development; Retarded psychomotor development; Seizure; Seizures



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12741813
Created: 2017-02-07
Species: Homo sapiens
Last Modified: 2019-09-17
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.