NM_001846.4(COL4A2):c.-215C>TRat Genome Database

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Variant : CV327338 (NM_001846.4(COL4A2):c.-215C>T) Homo sapiens

Symbol: CV327338
Name: NM_001846.4(COL4A2):c.-215C>T
RGD ID: 11665282
Condition: Acquired porencephaly [RCV000263402]|Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [RCV000385884]|Brain small vessel disease with hemorrhage [RCV000319008]|Porencephaly 2 [RCV001094101]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: COL4A1   COL4A2  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_011544.2:g.4792G>A
NG_032137.1:g.5075C>T
NC_000013.11:g.110307358C>T
NC_000013.10:g.110959705C>T
NM_001846.2:c.-215C>T
NM_001846.4:c.-215C>T
LRG_1116:g.4792G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh3813110,307,358 - 110,307,358CLINVAR
GRCh3713110,959,705 - 110,959,705CLINVAR
Cytogenetic Map1313q34CLINVAR
Trait Synonyms: BRAIN SMALL VESSEL DISEASE 2; COL4A1-Related Disorders; INFANTILE HEMIPARESIS; Porencephalic cyst
Age Of Onset: childhood
Prevalence: <1 / 1 000 000



Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Additional Information

Database Acc Id Source(s)
ClinVar RCV000263402 CLINVAR
  RCV000319008 CLINVAR
  RCV000385884 CLINVAR
  RCV001094101 CLINVAR
dbSNP (RS) rs7990017 CLINVAR
MedGen C2673195 CLINVAR
  C3280970 CLINVAR
  C4082172 CLINVAR
  CN029315 CLINVAR
NCBI Gene COL4A1 CLINVAR
  COL4A2 CLINVAR
OMIM 120090 CLINVAR
  120130 CLINVAR
  607595 CLINVAR
  611773 CLINVAR
  614483 CLINVAR