rs67211405 Rat Genome Database
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Summary
Variant: rs67211405 - Homo sapiens
RGD ID:
11621680
RS ID:
rs67211405
ClinVar ID:
CV339026
Genic Status:
GENIC
Type:
SNV
(SO:0001483)
Associated Genes:
ABCD1
Reference Nucleotide:
G
Variant Nucleotide:
A
Position
Assembly
Chr
Position
GRCh37
X
153,009,719
GRCh38
X
153,744,265
JBrowse:
View Region in Genome Browser (JBrowse)
Model
Annotation
Click to see Annotation Detail View
ClinVar Data
HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Prevalence
Trait Synonyms
NG_009022.2:g.24398G>A
NC_000023.11:g.153744265G>A
NC_000023.10:g.153009719G>A
NM_000033.4:c.*530G>A
NM_000033.3:c.*530G>A
LRG_1017t1:c.*530G>A
LRG_1017:g.24398G>A
More...
01/13/2018
3 prime utr variant
uncertain significance
1/20,000 births in general population
ADDISON DISEASE AND CEREBRAL SCLEROSIS; BRONZE SCHILDER DISEASE; MELANODERMIC LEUKODYSTROPHY; SIEMERLING-CREUTZFELDT DISEASE
Imported Disease Annotations - ClinVar
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV339026
Human
adrenoleukodystrophy
IAGP
8554872
ClinVar Annotator: match by term: Adrenoleukodystrophy
ClinVar
10
20
30
40
100
All Rows
Disease Annotations
Click to see Annotation Detail View
10
20
30
40
100
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adrenoleukodystrophy
(IAGP)
10
20
30
40
100
All Rows
Variant Details
Variant Transcripts
Gene Symbol:
ABCD1
Accession:
XM_047441916
Location:
3UTRS;EXON
Gene Symbol:
ABCD1
Accession:
NM_000033
Location:
3UTRS;EXON
Gene Symbol:
ABCD1
Accession:
XM_047441917
Location:
INTRON
.
Variant Samples
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ClinVar GRCh37
ClinVar GRCh38
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100
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Additional Information
External Database Links
3
5
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All Rows
Database
Acc Id
Source(s)
ClinVar
RCV000351429
CLINVAR
dbSNP (RS)
rs67211405
CLINVAR
MedGen
C0162309
CLINVAR
NCBI Gene
ABCD1
CLINVAR
OMIM
300100
CLINVAR
300371
CLINVAR
SNOMED CT
65389002
CLINVAR
3
5
10
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