RGD:127274507 Rat Genome Database

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Variant: RGD:127274507 -  Homo sapiens

RGD ID: 127274507
RS ID: rs2047914412
ClinVar ID: CV1065777
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127897208  OFD1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 13,779,331
GRCh38 X 13,761,212
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330210.2:c.1967+1G>C
NM_001330209.2:c.2267+1G>C
NM_003611.3:c.2387+1G>C
NG_008872.1:g.31500G>C
More... 		05/12/2021 splice donor variant likely pathogenic Cerebellar vermis hypoplasia; Ventriculomegaly
Disease Annotations     Click to see Annotation Detail View
polymicrogyria  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Polymicrogyria  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:OFD1
Accession:XM_017029909
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442583
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442586
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442585
Location:INTRON

Gene Symbol:OFD1
Accession:NM_003611
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442591
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442597
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442587
Location:INTRON

Gene Symbol:OFD1
Accession:NM_001330209
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442595
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442594
Location:INTRON

Gene Symbol:OFD1
Accession:XM_011545598
Location:INTRON

Gene Symbol:OFD1
Accession:XM_017029911
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442590
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442592
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442596
Location:INTRON

Gene Symbol:OFD1
Accession:NM_001330210
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442584
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442588
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442589
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442593
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001391275 CLINVAR
dbSNP (RS) rs2047914412 CLINVAR
MedGen C0266464 CLINVAR
NCBI Gene OFD1 CLINVAR
OMIM 300170 CLINVAR