rs767364494 Rat Genome Database

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Variant: rs767364494 -  Homo sapiens

RGD ID: 28901691
RS ID: rs767364494
ClinVar ID: CV879672
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCBE1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 57,364,601
GRCh38 18 59,697,369
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1209t1:c.-27G>T
NM_133459.4:c.-27G>T
LRG_1209:g.5044G>T
NG_016990.1:g.5044G>T
More... 		01/13/2018 5 prime utr variant uncertain significance LYMPHATIC DYSPLASIA, GENERALIZED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CCBE1
Accession:XM_047437301
Location:5UTRS;EXON

Gene Symbol:CCBE1
Accession:XM_017025557
Location:5UTRS;EXON

Gene Symbol:CCBE1
Accession:XM_047437302
Location:5UTRS;EXON

Gene Symbol:CCBE1
Accession:NM_133459
Location:5UTRS;EXON

Gene Symbol:CCBE1
Accession:XM_017025558
Location:5UTRS;EXON

Gene Symbol:CCBE1
Accession:XM_024451091
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001124912 CLINVAR
dbSNP (RS) rs767364494 CLINVAR
MedGen C4012050 CLINVAR
NCBI Gene CCBE1 CLINVAR
OMIM 235510 CLINVAR
  612753 CLINVAR