NM_001845.6(COL4A1):c.-90G>TRat Genome Database

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Variant : CV335235 (NM_001845.6(COL4A1):c.-90G>T) Homo sapiens

Symbol: CV335235
Name: NM_001845.6(COL4A1):c.-90G>T
RGD ID: 11665773
Condition: Acquired porencephaly [RCV000293049]|Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps [RCV000350326]|Brain small vessel disease 1 with or without ocular anomalies [RCV000385183]
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_032137.1:g.4834C>A
NG_011544.2:g.5033G>T
NC_000013.11:g.110307117C>A
NC_000013.10:g.110959464C>A
NM_001845.4:c.-90G>T
NM_001303110.2:c.-90G>T
NM_001845.6:c.-90G>T
LRG_1116t1:c.-90G>T
LRG_1116:g.5033G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3813110,307,117 - 110,307,117CLINVAR
GRCh3713110,959,464 - 110,959,464CLINVAR
Cytogenetic Map1313q34CLINVAR
Trait Synonyms: Autosomal Dominant Type 1 Porencephaly; COL4A1-Related Disorders; Hemiplegia, infantile, with porencephaly; Porencephalic cyst; RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT
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 RCV000293049 CLINVAR
  RCV000350326 CLINVAR
  RCV000385183 CLINVAR
dbSNP (RS) rs113651836 CLINVAR
MedGen C2673195 CLINVAR
  C4082172 CLINVAR
  C4551998 CLINVAR
NCBI Gene COL4A1 CLINVAR
  COL4A2 CLINVAR
OMIM 120090 CLINVAR
  120130 CLINVAR
  175780 CLINVAR
  611773 CLINVAR