RGD:21073736 Rat Genome Database

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Variant: RGD:21073736 -  Homo sapiens

RGD ID: 21073736
RS ID: rs1602226670
ClinVar ID: CV792490
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OPHN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 67,414,306
GRCh38 X 68,194,464
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.10:g.67414306C>T
NC_000023.11:g.68194464C>T
NM_002547.3:c.1138+1G>A
NG_008960.1:g.243994G>A
 05/28/2019 splice donor variant pathogenic INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE; MENTAL RETARDATION, X-LINKED 60
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OPHN1
Accession:XM_047442144
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_005262270
Location:INTRON

Gene Symbol:OPHN1
Accession:NM_002547
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_017029555
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_011530961
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_006724653
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_047442145
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000990853 CLINVAR
dbSNP (RS) rs1602226670 CLINVAR
MedGen C1845366 CLINVAR
NCBI Gene OPHN1 CLINVAR
OMIM 300127 CLINVAR
  300486 CLINVAR