rs751080433 Rat Genome Database
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Summary
ClinVar Data
Variant Details
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Variant: rs751080433 - Homo sapiens
RGD ID:
12895736
RS ID:
rs751080433
ClinVar ID:
CV390427
Genic Status:
GENIC
Type:
deletion
(SO:0000159)
Associated Genes:
ARHGAP6
Reference Nucleotide:
AAA
Variant Nucleotide:
-
Position
Assembly
Chr
Position
GRCh37
X
11,272,838 - 11,272,841
GRCh38
X
11,254,718 - 11,254,721
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
NC_000023.10:g.11272837_11272839delAAA
NM_013423.3:c.-21-12_-21-10del
NM_001287242.2:c.49-12_49-10del
NM_006125.3:c.589-12_589-10del
NM_013427.3:c.589-12_589-10del
NG_012494.1:g.415983_415985del
NG_012494.2:g.415983_415985del
NC_000023.11:g.11254736_11254738del
NC_000023.10:g.11272856_11272858del
NM_013427.2:c.589-12_589-10delTTT
More...
03/29/2016
intron variant
benign
AllHighlyPenetrant
Variant Details
Variant Transcripts
Gene Symbol:
ARHGAP6
Accession:
NM_013423
Location:
5UTRS;INTRON
Gene Symbol:
ARHGAP6
Accession:
NM_006125
Location:
INTRON
Gene Symbol:
ARHGAP6
Accession:
NM_001287242
Location:
INTRON
Gene Symbol:
ARHGAP6
Accession:
NM_013427
Location:
INTRON
Gene Symbol:
ARHGAP6
Accession:
NR_109776
Location:
INTRON;NON-CODING
.
Variant Samples
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ClinVar GRCh37
ClinVar GRCh38
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Additional References at PubMed
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PMID:
24033266
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Additional Information
External Database Links
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Database
Acc Id
Source(s)
ClinVar
RCV000454383
CLINVAR
dbSNP (RS)
rs751080433
CLINVAR
MedGen
CN169374
CLINVAR
NCBI Gene
ARHGAP6
CLINVAR
OMIM
300118
CLINVAR
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