RGD:13828175 Rat Genome Database

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Variant: RGD:13828175 -  Homo sapiens

RGD ID: 13828175
RS ID: rs201877439
ClinVar ID: CV581409
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRIT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 91,867,072
GRCh38 7 92,237,758
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_194456.1:c.264A>G
NP_001337626.1:p.Gly88=
NM_001350676.1:c.264A>G
NM_001350673.1:c.264A>G
More... 		05/14/2019 5 prime utr variant|synonymous variant likely benign 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:5UTRS;EXON

Gene Symbol:KRIT1
Accession:NM_001350678
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350679
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350683
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350686
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350694
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350691
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350674
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350689
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350696
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350693
Location:EXON

Gene Symbol:KRIT1
Accession:NM_194454
Location:EXON

Gene Symbol:KRIT1
Accession:NM_194456
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350684
Location:EXON

Gene Symbol:KRIT1
Accession:NM_004912
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350688
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350681
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350690
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350670
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001013406
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350680
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350669
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350697
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350675
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350672
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350685
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350687
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350677
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350695
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350692
Location:EXON

Gene Symbol:KRIT1
Accession:NM_194455
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350676
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350673
Location:EXON

Gene Symbol:KRIT1
Accession:NM_001350682
Location:EXON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000721880 CLINVAR
  RCV001425135 CLINVAR
  RCV003165953 CLINVAR
dbSNP (RS) rs201877439 CLINVAR
MedGen C0950123 CLINVAR
  C2919945 CLINVAR
  C3661900 CLINVAR
NCBI Gene KRIT1 CLINVAR
OMIM 116860 CLINVAR
  604214 CLINVAR