NM_007217.4(PDCD10):c.-438G>CRat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV353642 (NM_007217.4(PDCD10):c.-438G>C) Homo sapiens

Symbol: CV353642
Name: NM_007217.4(PDCD10):c.-438G>C
RGD ID: 11665576
Condition: Cerebral cavernous malformation [RCV000280104]|Encephalopathy, familial, with neuroserpin inclusion bodies [RCV000337520]
Clinical Significance: benign|likely benign|uncertain significance
Last Evaluated: 01/13/2018
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_145859.1:c.-230G>C
NG_008217.1:g.4203C>G
NG_008158.1:g.5018G>C
NC_000003.12:g.167734846C>G
NC_000003.11:g.167452634C>G
NM_007217.4:c.-438G>C
NM_005025.4:c.-1308C>G
LRG_651t1:c.-438G>C
LRG_651:g.5018G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh383167,734,846 - 167,734,846CLINVAR
GRCh373167,452,634 - 167,452,634CLINVAR
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 RCV000280104 CLINVAR
  RCV000337520 CLINVAR
dbSNP (RS) rs546722173 CLINVAR
MedGen C1858680 CLINVAR
  C2919945 CLINVAR
NCBI Gene PDCD10 CLINVAR
  SERPINI1 CLINVAR
OMIM 116860 CLINVAR
  602445 CLINVAR
  604218 CLINVAR
  609118 CLINVAR