RGD:11583690 Rat Genome Database

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Variant: RGD:11583690 -  Homo sapiens

RGD ID: 11583690
RS ID: rs376701295
ClinVar ID: CV278465
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHIT1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 203,185,418
GRCh38 1 203,216,290
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.*599C>G
NG_012867.1:g.18443C>G
NC_000001.11:g.203216290G>C
NC_000001.10:g.203185418G>C
More... 		06/14/2016 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHIT1
Accession:NM_001256125
Location:3UTRS;EXON

Gene Symbol:CHIT1
Accession:NM_003465
Location:3UTRS;EXON

Gene Symbol:CHIT1
Accession:XM_047442899
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000268425 CLINVAR
dbSNP (RS) rs376701295 CLINVAR
MedGen C3279902 CLINVAR
NCBI Gene CHIT1 CLINVAR
OMIM 600031 CLINVAR
  614122 CLINVAR