RGD:155977171 Rat Genome Database

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Variant: RGD:155977171 -  Homo sapiens

RGD ID: 155977171
ClinVar ID: CV2100147
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DIAPH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 140,961,876
GRCh38 5 141,582,309
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_1117t1:c.657+3G>A
LRG_1117t2:c.684+3G>A
NM_001079812.3:c.657+3G>A
NM_001314007.2:c.684+3G>A
More... 		09/28/2022 intron variant 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
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2100147Humanautosomal dominant nonsyndromic deafness 1  IAGP 8554872ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIAClinVarPMID:17576681|PMID:28492532|PMID:9536098
CV2100147HumanSeizures, Cortical Blindness, and Microcephaly Syndrome  IAGP 8554872ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndromeClinVarPMID:17576681|PMID:28492532|PMID:9536098
Gene Symbol:DIAPH1
Accession:NM_001079812
Location:INTRON

Gene Symbol:DIAPH1
Accession:NM_005219
Location:INTRON

Gene Symbol:DIAPH1
Accession:NM_001314007
Location:INTRON

Gene Symbol:DIAPH1
Accession:XM_047416885
Location:INTRON

Gene Symbol:DIAPH1
Accession:XM_047416884
Location:INTRON

.
PMID:9536098   PMID:17576681   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002881758 CLINVAR
MedGen C1852282 CLINVAR
NCBI Gene DIAPH1 CLINVAR
OMIM 124900 CLINVAR
  602121 CLINVAR
  616632 CLINVAR