RGD:13705391 Rat Genome Database

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Variant: RGD:13705391 -  Homo sapiens

RGD ID: 13705391
RS ID: rs72645317
ClinVar ID: CV536946
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A1  LOC126862586  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 48,274,424
GRCh38 17 50,197,063
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1t1:c.751G>T
LRG_1:g.9577G>T
LRG_1p1:p.Gly251Cys
NC_000017.10:g.48274424C>A
More... 		05/17/2018 missense variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:COL1A1
Accession:NM_000088
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_005257059
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_011524341
Location:INTRON

Gene Symbol:COL1A1
Accession:XM_005257058
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000657899 CLINVAR
dbSNP (RS) rs72645317 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene COL1A1 CLINVAR
  LOC126862586 CLINVAR
OMIM 120150 CLINVAR