NM_005025.4(SERPINI1):c.-214A>GRat Genome Database

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Variant : CV293317 (NM_005025.4(SERPINI1):c.-214A>G) Homo sapiens

Symbol: CV293317
Name: NM_005025.4(SERPINI1):c.-214A>G
RGD ID: 11665436
Condition: Cerebral cavernous malformation [RCV000311644]|Encephalopathy, familial, with neuroserpin inclusion bodies [RCV000271105]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: PDCD10   SERPINI1  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001122752.1:c.-19+117A>G
NM_005025.4:c.-214A>G
NG_008158.1:g.3924T>C
NG_008217.1:g.5297A>G
NC_000003.12:g.167735940A>G
NC_000003.11:g.167453728A>G
LRG_651:g.3924T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh383167,735,940 - 167,735,940CLINVAR
GRCh373167,453,728 - 167,453,728CLINVAR
Cytogenetic Map33q26.1CLINVAR
Trait Synonyms: CAVERNOUS ANGIOMA, FAMILIAL; CAVERNOUS ANGIOMATOUS MALFORMATIONS; Cavernous Hemangioma of Brain; CEREBRAL CAPILLARY MALFORMATIONS; Cerebral cavernous hemangioma (type); CEREBRAL CAVERNOUS MALFORMATIONS; Encephalopathy, familial, with Collins bodies
Age Of Onset: adult|all ages
Prevalence: 1-5 / 10 000|<1 / 1 000 000



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Additional Information

Database Acc Id Source(s)
ClinVar RCV000271105 CLINVAR
  RCV000311644 CLINVAR
dbSNP (RS) rs145045884 CLINVAR
MedGen C1858680 CLINVAR
  C2919945 CLINVAR
NCBI Gene PDCD10 CLINVAR
  SERPINI1 CLINVAR
OMIM 116860 CLINVAR
  602445 CLINVAR
  604218 CLINVAR
  609118 CLINVAR