rs570143443 Rat Genome Database
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Summary
ClinVar Data
Variant Details
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Variant: rs570143443 - Homo sapiens
RGD ID:
152158748
RS ID:
rs570143443
ClinVar ID:
CV1529103
Genic Status:
GENIC
Type:
deletion
(SO:0000159)
Associated Genes:
NDUFAF5
Reference Nucleotide:
TACCTG
Variant Nucleotide:
-
Position
Assembly
Chr
Position
GRCh37
20
13,797,090 - 13,797,096
GRCh38
20
13,816,444 - 13,816,450
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_001352406.2:c.218-18_218-13del
NM_001352407.2:c.218-18_218-13del
NM_001352403.2:c.308-18_308-13del
NM_001039375.3:c.695-18_695-13del
NM_024120.5:c.779-18_779-13del
NG_015811.1:g.36420_36425del
NC_000020.11:g.13816445_13816450del
NC_000020.10:g.13797089_13797094del
NC_000020.10:g.13797091_13797096del
More...
01/31/2024
intron variant
benign
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Variant Details
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Variant Samples
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ClinVar GRCh37
ClinVar GRCh38
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Additional References at PubMed
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PMID:
28492532
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Additional Information
External Database Links
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Database
Acc Id
Source(s)
ClinVar
RCV002159250
CLINVAR
dbSNP (RS)
rs570143443
CLINVAR
MedGen
C3661900
CLINVAR
NCBI Gene
NDUFAF5
CLINVAR
OMIM
612360
CLINVAR
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