RGD:11653127 Rat Genome Database

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Variant: RGD:11653127 -  Homo sapiens

RGD ID: 11653127
RS ID: rs886055152
ClinVar ID: CV285439
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: CHN1  
Reference Nucleotide: TTAAT
Variant Nucleotide: -----
Position
Assembly Chr Position
GRCh37 2 175,664,153 - 175,664,158
GRCh38 2 174,799,425 - 174,799,430
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.174799425_174799429del
NC_000002.11:g.175664153_175664157del
NG_012642.2:g.211014_211018del
NR_038133.2:n.1935_1939del
More... 		06/14/2016 3 prime utr variant uncertain significance Duane anomaly; Duane syndrome; Duane's syndrome
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Duane anomaly  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:CHN1
Accession:NM_001822
Location:3UTRS;EXON

Gene Symbol:CHN1
Accession:NM_001025201
Location:3UTRS;EXON

Gene Symbol:CHN1
Accession:NM_001371514
Location:3UTRS;EXON

Gene Symbol:CHN1
Accession:NM_001206602
Location:3UTRS;EXON

Gene Symbol:CHN1
Accession:NM_001371513
Location:3UTRS;EXON

Gene Symbol:CHN1
Accession:NR_038133
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000309225 CLINVAR
dbSNP (RS) rs886055152 CLINVAR
MedGen C0013261 CLINVAR
NCBI Gene CHN1 CLINVAR
OMIM 118423 CLINVAR
  126800 CLINVAR
SNOMED CT 60318001 CLINVAR