RGD:13477154 Rat Genome Database

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Variant: RGD:13477154 -  Homo sapiens

RGD ID: 13477154
RS ID: rs1554527925
ClinVar ID: CV457675
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRIT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 91,864,239
GRCh38 7 92,234,925
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012964.1:g.16176A>G
NC_000007.13:g.91864239T>C
NC_000007.14:g.92234925T>C
NM_001350674.1:c.730-2A>G
More... 		08/29/2017 splice acceptor variant pathogenic 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_001350685
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_194455
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001013406
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350680
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350670
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350696
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350683
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_194454
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350673
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350687
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350684
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350693
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_194456
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350682
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350691
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350671
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350674
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350697
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350679
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350686
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350695
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_004912
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350678
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350669
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350676
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350677
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350689
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350692
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350675
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350694
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350672
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350688
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350690
Location:INTRON

Gene Symbol:KRIT1
Accession:NM_001350681
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10508515   PMID:11222804   PMID:12404106   PMID:15079030   PMID:16199547   PMID:23595507   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000549458 CLINVAR
dbSNP (RS) rs1554527925 CLINVAR
MedGen C2919945 CLINVAR
NCBI Gene KRIT1 CLINVAR
OMIM 116860 CLINVAR
  604214 CLINVAR