RGD:28884236 Rat Genome Database

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Variant: RGD:28884236 -  Homo sapiens

RGD ID: 28884236
RS ID: rs1656648423
ClinVar ID: CV865095
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHIT1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 203,188,466
GRCh38 1 203,219,338
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256125.2:c.859-9C>G
NC_000001.10:g.203188466G>C
NM_003465.2:c.916-9C>G
NC_000001.11:g.203219338G>C
More... 		01/13/2018 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHIT1
Accession:NM_001256125
Location:INTRON

Gene Symbol:CHIT1
Accession:XM_047442899
Location:INTRON

Gene Symbol:CHIT1
Accession:NM_003465
Location:INTRON

Gene Symbol:CHIT1
Accession:NR_045784
Location:INTRON;NON-CODING

Gene Symbol:CHIT1
Accession:NR_045785
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001097746 CLINVAR
dbSNP (RS) rs1656648423 CLINVAR
MedGen C3279902 CLINVAR
NCBI Gene CHIT1 CLINVAR
OMIM 600031 CLINVAR
  614122 CLINVAR