RGD:13817999 Rat Genome Database

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Variant: RGD:13817999 -  Homo sapiens

RGD ID: 13817999
RS ID: rs1563244629
ClinVar ID: CV567217
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRIT1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 91,843,922
GRCh38 7 92,214,608
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001350680.1:c.1730+3A>C
NM_001350686.1:c.1730+3A>C
NM_001350687.1:c.1730+3A>C
NC_000007.14:g.92214608T>G
More... 		04/14/2021 intron variant likely pathogenic|uncertain significance CAVERNOUS ANGIOMA, FAMILIAL; CAVERNOUS ANGIOMATOUS MALFORMATIONS; Cavernous Hemangioma of Brain; CEREBRAL CAPILLARY MALFORMATIONS; Cerebral cavernous hemangioma (type); CEREBRAL CAVERNOUS MALFORMATIONS; none provided
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_001350671
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350682
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350695
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350684
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350676
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350693
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350681
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350688
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350697
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350691
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_194454
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350673
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350674
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350679
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350680
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350683
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_194456
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350694
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350685
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350690
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350692
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350675
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350689
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350678
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_194455
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_004912
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350670
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350677
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350696
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350686
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350672
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001013406
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350669
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350687
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:23595507   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000693414 CLINVAR
  RCV000721855 CLINVAR
dbSNP (RS) rs1563244629 CLINVAR
MedGen C2919945 CLINVAR
  C3661900 CLINVAR
NCBI Gene KRIT1 CLINVAR
OMIM 116860 CLINVAR
  604214 CLINVAR