rs863223484 Rat Genome Database
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Summary
ClinVar Data
Variant Details
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Variant: rs863223484 - Homo sapiens
RGD ID:
10411104
RS ID:
rs863223484
ClinVar ID:
CV210110
Genic Status:
GENIC
Type:
deletion
(SO:0000159)
Associated Genes:
COL5A1
LOC101448202
Reference Nucleotide:
ACTGGTCCT
Variant Nucleotide:
-
Position
Assembly
Chr
Position
GRCh37
9
137,713,950 - 137,713,959
GRCh38
9
134,822,104 - 134,822,113
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
p.T1521_P1523del
NP_000084.3:p.Thr1521_Pro1523del
NP_001265003.1:p.Thr1521_Pro1523del
LRG_737:g.185298_185306del
LRG_737p2:p.Thr1521_Pro1523del
LRG_737t2:c.4561_4569del
NM_000093.5:c.4561_4569del
NM_001278074.1:c.4561_4569del
NG_008030.1:g.185298_185306del
NC_000009.12:g.134822103_134822111del
NC_000009.11:g.137713949_137713957del
NM_000093.3:c.4561_4569delACTGGTCCT
More...
09/03/2014
inframe_deletion|inframe_variant
uncertain significance
none provided
Variant Details
.
Variant Samples
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ClinVar GRCh37
ClinVar GRCh38
1 to 1 of 1 rows
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Additional Information
External Database Links
1 to 6 of 6 rows
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5
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Database
Acc Id
Source(s)
ClinVar
RCV000199563
CLINVAR
dbSNP (RS)
rs863223484
CLINVAR
MedGen
CN517202
CLINVAR
NCBI Gene
101448202
CLINVAR
COL5A1
CLINVAR
OMIM
120215
CLINVAR
1 to 6 of 6 rows
3
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