RGD:150505764 Rat Genome Database

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Variant: RGD:150505764 -  Homo sapiens

RGD ID: 150505764
RS ID: rs61098550
ClinVar ID: CV1213609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OPHN1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 67,417,278
GRCh38 X 68,197,436
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002547.3:c.1026-172G>C
NG_008960.1:g.241022G>C
NC_000023.11:g.68197436C>G
NC_000023.10:g.67417278C>G
 06/26/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:OPHN1
Accession:XM_017029555
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_006724653
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_011530961
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_047442145
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_005262270
Location:INTRON

Gene Symbol:OPHN1
Accession:NM_002547
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_047442144
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001595865 CLINVAR
dbSNP (RS) rs61098550 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene OPHN1 CLINVAR
OMIM 300127 CLINVAR