rs374715103 Rat Genome Database

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Variant: rs374715103 -  Homo sapiens

RGD ID: 11605071
RS ID: rs374715103
ClinVar ID: CV317798
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,735,956
GRCh38 9 134,844,110
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001278074.1:c.*1807G>C
NG_008030.1:g.207305G>C
NC_000009.12:g.134844110G>C
NC_000009.11:g.137735956G>C
More...
01/12/2018 3 prime utr variant benign|likely benign
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV317798HumanEhlers-Danlos syndrome arthrochalasia type 1  IAGP 8554872ClinVar Annotator: match by term: Ehlers-Danlos syndrome and type 7AClinVar 
CV317798HumanEhlers-Danlos syndrome classic type 1  IAGP 8554872ClinVar Annotator: match by term: Ehlers-Danlos syndrome and classic typeClinVar 


Gene Symbol:COL5A1
Accession:NM_000093
Location:3UTRS;EXON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:3UTRS;EXON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Gene Symbol:LOC101448202
Accession:NR_103451
Location:INTRON;NON-CODING

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Database
Acc Id
Source(s)
ClinVar RCV000315434 CLINVAR
  RCV001166076 CLINVAR
dbSNP (RS) rs374715103 CLINVAR
MedGen C3508773 CLINVAR
  C4225429 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR