RGD:11606313 Rat Genome Database

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Variant: RGD:11606313 -  Homo sapiens

RGD ID: 11606313
RS ID: rs571563061
ClinVar ID: CV311899
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRIT1  LOC113748416  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 91,875,208
GRCh38 7 92,245,894
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_650t1:c.-590+12G>T
NM_194456.1:c.-590+12G>T
LRG_650:g.5207G>T
NG_012964.1:g.5207G>T
More... 		01/13/2018 5 prime utr variant benign|likely benign all ages 1-5 / 10 000 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_001350683
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_004912
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350693
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350691
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350686
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350670
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_194455
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350682
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350689
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350671
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001013406
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350696
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350690
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350685
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350687
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350688
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350679
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350669
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350694
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350692
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350697
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350695
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350684
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350681
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_194454
Location:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_194456
Location:5UTRS;INTRON

Gene Symbol:KRIT1
Accession:NM_001350672
Location:5UTRS;INTRON

Gene Symbol:KRIT1
Accession:NM_001350677
Location:5UTRS;INTRON

Gene Symbol:KRIT1
Accession:NM_001350673
Location:5UTRS;INTRON

Gene Symbol:KRIT1
Accession:NM_001350674
Location:5UTRS;INTRON

Gene Symbol:KRIT1
Accession:NM_001350678
Location:5UTRS;INTRON

Gene Symbol:KRIT1
Accession:NM_001350680
Location:5UTRS;INTRON

Gene Symbol:KRIT1
Accession:NM_001350676
Location:5UTRS;INTRON

Gene Symbol:KRIT1
Accession:NM_001350675
Location:5UTRS;INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000329870 CLINVAR
  RCV000386656 CLINVAR
dbSNP (RS) rs571563061 CLINVAR
MedGen C1838141 CLINVAR
  C2919945 CLINVAR
NCBI Gene 113748416 CLINVAR
  KRIT1 CLINVAR
OMIM 116860 CLINVAR
  600419 CLINVAR
  604214 CLINVAR