RGD:153347303 Rat Genome Database

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Variant: RGD:153347303 -  Homo sapiens

RGD ID: 153347303
RS ID: rs373873548
ClinVar ID: CV1694558
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 48,269,391
GRCh38 17 50,192,030
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1t1:c.1984-6C>T
NC_000017.10:g.48269391G>A
NM_000088.3:c.1984-6C>T
NG_007400.1:g.14610C>T
More... 		01/01/2020 intron variant likely benign|uncertain significance ED syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL1A1
Accession:XM_011524341
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_005257059
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_005257058
Location:INTRON

Gene Symbol:COL1A1
Accession:NM_000088
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002277957 CLINVAR
  RCV003971226 CLINVAR
dbSNP (RS) rs373873548 CLINVAR
MedGen C0013720 CLINVAR
NCBI Gene COL1A1 CLINVAR
OMIM 120150 CLINVAR
SNOMED CT 398114001 CLINVAR