RGD:126727603 Rat Genome Database

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Variant: RGD:126727603 -  Homo sapiens

RGD ID: 126727603
RS ID: rs2048165288
ClinVar ID: CV1014780
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OFD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 13,785,403
GRCh38 X 13,767,284
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_003602.1:p.Arg919=
NC_000023.11:g.13767284G>A
NC_000023.10:g.13785403G>A
NP_001317139.1:p.Arg779=
More... 		03/06/2020 synonymous variant uncertain significance Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Joubert-Boltshauser syndrome; OFD syndrome 1; OFDS 1; OFDS I; Oral-facial-digital syndrome type 1; Oral-Facial-Digital Syndrome Type I; Orofaciodigital syndrome 1; Orofaciodigital syndrome I; Papillon-Leage and Psaume Syndrome; Papillon-League-Psaume syndrome (formerly)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OFD1
Accession:XM_047442597
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442594
Location:INTRON

Gene Symbol:OFD1
Accession:XM_017029909
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442586
Location:INTRON

Gene Symbol:OFD1
Accession:XM_011545598
Location:INTRON

Gene Symbol:OFD1
Accession:NM_001330209
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442591
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442587
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442592
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442593
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442588
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442583
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442596
Location:INTRON

Gene Symbol:OFD1
Accession:NM_003611
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442584
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442585
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442590
Location:INTRON

Gene Symbol:OFD1
Accession:XM_017029911
Location:INTRON

Gene Symbol:OFD1
Accession:NM_001330210
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442589
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442595
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001312316 CLINVAR
dbSNP (RS) rs2048165288 CLINVAR
MedGen C0431399 CLINVAR
NCBI Gene OFD1 CLINVAR
OMIM 213300 CLINVAR
  300170 CLINVAR
  311200 CLINVAR
SNOMED CT 253175003 CLINVAR