RGD:156234867 Rat Genome Database
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Summary
Annotation
ClinVar Data
Imported Disease - ClinVar
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Variant: RGD:156234867 - Homo sapiens
RGD ID:
156234867
ClinVar ID:
CV1982380
Genic Status:
GENIC
Type:
deletion
(SO:0000159)
Associated Genes:
DIAPH1
Reference Nucleotide:
CAAAGGAGGGGGTGGAGGGATGGTAGCATCCCCAGA
Variant Nucleotide:
-
Position
Assembly
Chr
Position
GRCh37
5
140,953,447 - 140,953,483
GRCh38
5
141,573,880 - 141,573,916
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
LRG_1117t1:c.1909_1944del
LRG_1117t2:c.1936_1971del
NM_001079812.3:c.1909_1944del
NM_001314007.2:c.1936_1971del
NM_005219.5:c.1936_1971del
LRG_1117:g.50142_50177del
NG_011594.2:g.50142_50177del
NC_000005.10:g.141573896_141573931del
NC_000005.9:g.140953446_140953481del
NC_000005.9:g.140953463_140953498del
LRG_1117p1:p.Ser637_Leu648del
LRG_1117p2:p.Ser646_Leu657del
NP_001073280.1:p.Ser637_Leu648del
NP_001300936.1:p.Ser646_Leu657del
NP_005210.3:p.Ser646_Leu657del
More...
07/25/2023
inframe_deletion
uncertain significance
Deafness, autosomal dominant 1; DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA; KONIGSMARK SYNDROME; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome; Seizures, cortical blindness, and microcephaly syndrome
Imported Disease Annotations - ClinVar
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1982380
Human
autosomal dominant nonsyndromic deafness 1
IAGP
8554872
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA
ClinVar
PMID:28492532
CV1982380
Human
Seizures, Cortical Blindness, and Microcephaly Syndrome
IAGP
8554872
ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar
PMID:28492532
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Disease Annotations
Click to see Annotation Summary View
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autosomal dominant nonsyndromic deafness 1
(IAGP)
Seizures, Cortical Blindness, and Microcephaly Syndrome
(IAGP)
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Variant Details
.
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
RCV002626931
CLINVAR
MedGen
C1852282
CLINVAR
NCBI Gene
DIAPH1
CLINVAR
OMIM
124900
CLINVAR
602121
CLINVAR
616632
CLINVAR
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