RGD:8570902 Rat Genome Database

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Variant: RGD:8570902 -  Homo sapiens

RGD ID: 8570902
ClinVar ID: CV49482
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126863212  OFD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 13,753,465
GRCh38 X 13,735,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008872.1:g.5634G>A
NC_000023.11:g.13735346G>A
NC_000023.10:g.13753465G>A
NP_003602.1:p.Lys37=
More... 		02/28/2013 2kb upstream variant|5 prime utr variant|neargene-5|synonymous variant pathogenic neonatal/infancy estimates range from 1:250,000 to 1:50,000. OFD syndrome 1; OFDS 1; OFDS I; Oral-facial-digital syndrome type 1; Oral-Facial-Digital Syndrome Type I; Orofaciodigital syndrome 1; Papillon-Leage and Psaume Syndrome; Papillon-League-Psaume syndrome (formerly)

Variant Details
Variant Transcripts
Gene Symbol:OFD1
Accession:NM_001330210
Location:5UTRS;INTRON

Gene Symbol:OFD1
Accession:XM_047442588
Location:INTRON

Gene Symbol:OFD1
Accession:XM_017029911
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442592
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442586
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442589
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442597
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442587
Location:INTRON

Gene Symbol:OFD1
Accession:XM_011545598
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442594
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_047442593
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442595
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442596
Location:INTRON

Gene Symbol:OFD1
Accession:NM_001330209
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442583
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442590
Location:INTRON

Gene Symbol:OFD1
Accession:XM_017029909
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442591
Location:INTRON

Variant Samples