RGD:11651943 Rat Genome Database

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Variant: RGD:11651943 -  Homo sapiens

RGD ID: 11651943
RS ID: rs886062868
ClinVar ID: CV314105
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ESCO2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 27,661,177
GRCh38 8 27,803,660
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
NM_001017420.3:c.*222T>C
NM_001017420.2:c.*222T>C
NG_008117.1:g.34120T>C
NC_000008.11:g.27803660T>C
More... 		06/14/2016 3 prime utr variant uncertain significance antenatal rbs is rare; no accurate estimates of prevalence have been published. approximately 150 individuals of diverse racial and ethnic backgrounds have been reported. Long bone deficiencies associated with cleft lip-palate; Roberts syndrome/SC phocomelia; Tetraphocomelia-cleft palate syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ESCO2
Accession:NM_001017420
Location:3UTRS;EXON

Gene Symbol:ESCO2
Accession:XM_011544421
Location:3UTRS;EXON

Gene Symbol:ESCO2
Accession:XM_011544422
Location:INTRON

Gene Symbol:ESCO2
Accession:XR_949378
Location:INTRON;NON-CODING

Gene Symbol:ESCO2
Accession:XR_007060703
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000301776 CLINVAR
dbSNP (RS) rs886062868 CLINVAR
MedGen C0392475 CLINVAR
NCBI Gene ESCO2 CLINVAR
OMIM 268300 CLINVAR
  609353 CLINVAR
SNOMED CT 48718006 CLINVAR