RGD:28870880 Rat Genome Database

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Variant: RGD:28870880 -  Homo sapiens

RGD ID: 28870880
RS ID: rs369227523
ClinVar ID: CV898483
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRIT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 91,830,004
GRCh38 7 92,200,690
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001350670.1:c.*46G>A
NM_001350671.1:c.*46G>A
NM_001350672.1:c.*46G>A
NM_001350679.1:c.*46G>A
More... 		01/13/2018 3 prime utr variant benign|uncertain significance CAVERNOUS ANGIOMA, FAMILIAL; CAVERNOUS ANGIOMATOUS MALFORMATIONS; Cavernous Hemangioma of Brain; CEREBRAL CAPILLARY MALFORMATIONS; Cerebral cavernous hemangioma (type); CEREBRAL CAVERNOUS MALFORMATIONS
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KRIT1
Accession:NM_194456
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_194454
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350676
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350679
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001013406
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350696
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350674
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350691
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350675
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350697
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350693
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350681
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350671
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350692
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350677
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350685
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_194455
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350673
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350669
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350684
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350680
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350678
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350670
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350672
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350688
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350690
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350695
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350694
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350683
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350687
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350689
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350682
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_004912
Location:3UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350686
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001163708 CLINVAR
  RCV001163709 CLINVAR
dbSNP (RS) rs369227523 CLINVAR
MedGen C1838141 CLINVAR
  C2919945 CLINVAR
NCBI Gene KRIT1 CLINVAR
OMIM 116860 CLINVAR
  600419 CLINVAR
  604214 CLINVAR