RGD:13490857 Rat Genome Database

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Variant: RGD:13490857 -  Homo sapiens

RGD ID: 13490857
RS ID: rs1393894659
ClinVar ID: CV455234
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DIAPH1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 140,961,950
GRCh38 5 141,582,383
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.141582383T>C
NC_000005.9:g.140961950T>C
NM_001079812.3:c.594-8A>G
NM_001314007.2:c.621-8A>G
More... 		10/03/2018 intron variant likely benign 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DIAPH1
Accession:NM_001079812
Location:INTRON

Gene Symbol:DIAPH1
Accession:XM_047416884
Location:INTRON

Gene Symbol:DIAPH1
Accession:NM_001314007
Location:INTRON

Gene Symbol:DIAPH1
Accession:XM_047416885
Location:INTRON

Gene Symbol:DIAPH1
Accession:NM_005219
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001480447 CLINVAR
dbSNP (RS) rs1393894659 CLINVAR
MedGen C1852282 CLINVAR
NCBI Gene DIAPH1 CLINVAR
OMIM 124900 CLINVAR
  602121 CLINVAR
  616632 CLINVAR