RGD:11595781 Rat Genome Database

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Variant: RGD:11595781 -  Homo sapiens

RGD ID: 11595781
RS ID: rs143852940
ClinVar ID: CV285451
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHN1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 175,664,816
GRCh38 2 174,800,088
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.174800088A>G
NC_000002.11:g.175664816A>G
NM_001822.5:c.*28T>C
NR_038133.2:n.1276T>C
More... 		01/13/2018 3 prime utr variant benign|likely benign Duane syndrome type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHN1
Accession:NM_001025201
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:NM_001371514
Location:3UTRS;EXON

Gene Symbol:CHN1
Accession:NM_001822
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000374291 CLINVAR
dbSNP (RS) rs143852940 CLINVAR
MedGen C0751083 CLINVAR
NCBI Gene CHN1 CLINVAR
OMIM 118423 CLINVAR
  604356 CLINVAR