NM_007217.4(PDCD10):c.574G>A (p.Val192Ile)Rat Genome Database

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Variant : CV290221 (NM_007217.4(PDCD10):c.574G>A (p.Val192Ile)) Homo sapiens

Symbol: CV290221
Name: NM_007217.4(PDCD10):c.574G>A (p.Val192Ile)
RGD ID: 11597592
Condition: Cerebral cavernous malformation [RCV000396088]|Cerebral cavernous malformations 3 [RCV001406380]|not provided [RCV000981798]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 10/26/2018
Review Status: criteria provided, single submitter
Related Genes: PDCD10  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_145860.1:c.574G>A
NG_008158.1:g.55491G>A
NC_000003.12:g.167684373C>T
NC_000003.11:g.167402161C>T
NP_009148.2:p.Val192Ile
NP_665859.1:p.Val192Ile
NM_007217.4:c.574G>A
NM_145859.1:c.574G>A
NP_665858.1:p.Val192Ile
LRG_651t1:c.574G>A
LRG_651:g.55491G>A
LRG_651p1:p.Val192Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh383167,684,373 - 167,684,373CLINVAR
GRCh373167,402,161 - 167,402,161CLINVAR
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
Age Of Onset: all ages
Prevalence: 1-5 / 10 000



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000396088 CLINVAR
  RCV000981798 CLINVAR
  RCV001406380 CLINVAR
dbSNP (RS) rs151267430 CLINVAR
MedGen C1864040 CLINVAR
  C2919945 CLINVAR
  CN517202 CLINVAR
NCBI Gene PDCD10 CLINVAR
OMIM 116860 CLINVAR
  603285 CLINVAR
  609118 CLINVAR