RGD:11631259 Rat Genome Database

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Variant: RGD:11631259 -  Homo sapiens

RGD ID: 11631259
RS ID: rs778354482
ClinVar ID: CV350113
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127893737  SALL4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 50,405,693
GRCh38 20 51,789,154
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_675:g.18356C>T
NG_008000.1:g.18356C>T
NC_000020.11:g.51789154G>A
NC_000020.10:g.50405693G>A
More...
09/27/2022 intron variant likely benign|uncertain significance Acrorenoocular syndrome; DR SYNDROME; DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS; Duane-Radial Ray Syndrome/Okihiro Syndrome; Okihiro Syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SALL4
Accession:NM_020436
Location:INTRON

Gene Symbol:SALL4
Accession:NM_001318031
Location:INTRON

Gene Symbol:SALL4
Accession:XM_047440318
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002629672 CLINVAR
dbSNP (RS) rs778354482 CLINVAR
MedGen C1623209 CLINVAR
NCBI Gene SALL4 CLINVAR
OMIM 607323 CLINVAR
  607343 CLINVAR