rs374715103 Rat Genome Database
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Summary
Annotation
ClinVar Data
Imported Disease - ClinVar
Variant Details
Variant Transcripts
Variant Samples
Additional Information
External Database Links
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
Annotation
Click to see Annotation Summary View
ClinVar Data
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
LRG_737t1:c.*1807G>C
LRG_737:g.207305G>C
NM_000093.5:c.*1807G>C
LRG_737t2:c.*1807G>C
NM_000093.4:c.*1807G>C
More...
01/12/2018
3 prime utr variant
benign|likely benign
Imported Disease Annotations - ClinVar
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV317798
Human
Ehlers-Danlos syndrome arthrochalasia type 1
IAGP
8554872
ClinVar Annotator: match by term: Ehlers-Danlos syndrome and type 7A
ClinVar
CV317798
Human
Ehlers-Danlos syndrome classic type 1
IAGP
8554872
ClinVar Annotator: match by term: Ehlers-Danlos syndrome and classic type
ClinVar
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Disease Annotations
Click to see Annotation Summary View
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Ehlers-Danlos syndrome arthrochalasia type 1
(IAGP)
Ehlers-Danlos syndrome classic type 1
(IAGP)
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Variant Details
Variant Transcripts
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
.
Variant Samples
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ClinVar GRCh37
ClinVar GRCh38
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Additional Information
External Database Links
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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
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