RGD:401921990 Rat Genome Database

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Variant: RGD:401921990 -  Homo sapiens

RGD ID: 401921990
ClinVar ID: CV2819706
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CELSR1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 46,792,651
GRCh38 22 46,396,754
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001378328.1:c.5702-8C>T
NM_014246.4:c.5702-8C>T
NG_030466.2:g.145417C>T
NC_000022.11:g.46396754G>A
More... 		09/01/2022 intron variant benign|likely benign CELSR1-related condition; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CELSR1
Accession:NM_014246
Location:INTRON

Gene Symbol:CELSR1
Accession:XM_011530554
Location:INTRON

Gene Symbol:CELSR1
Accession:XM_047441624
Location:INTRON

Gene Symbol:CELSR1
Accession:NM_001378328
Location:INTRON

Gene Symbol:CELSR1
Accession:XM_011530553
Location:INTRON

Gene Symbol:CELSR1
Accession:XM_011530555
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003433313 CLINVAR
  RCV003929123 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CELSR1 CLINVAR
OMIM 604523 CLINVAR