RGD:13829112 Rat Genome Database

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Variant: RGD:13829112 -  Homo sapiens

RGD ID: 13829112
RS ID: rs1569215808
ClinVar ID: CV580910
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OPHN1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 67,333,083
GRCh38 X 68,113,241
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008960.1:g.325217A>G
NC_000023.11:g.68113241T>C
NC_000023.10:g.67333083T>C
NM_002547.3:c.1362-2A>G
More...
11/16/2016 splice acceptor variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OPHN1
Accession:NM_002547
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_005262270
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_006724653
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_011530961
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_017029555
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_047442144
Location:INTRON

Gene Symbol:OPHN1
Accession:XM_047442145
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002314532 CLINVAR
dbSNP (RS) rs1569215808 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene OPHN1 CLINVAR
OMIM 300127 CLINVAR