RGD:11585618 Rat Genome Database

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Variant: RGD:11585618 -  Homo sapiens

RGD ID: 11585618
RS ID: rs143723917
ClinVar ID: CV302240
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC26A2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 149,362,928
GRCh38 5 149,983,365
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
LRG_684t1:c.*1552G>C
LRG_684:g.24483G>C
NG_007147.2:g.24483G>C
NC_000005.10:g.149983365G>C
More... 		01/13/2018 3 prime utr variant benign|likely benign|uncertain significance childhood|neonatal 1-9 / 100 000 Achondrogenesis Fraccaro type; Atelosteogenesis type 2; Diastrophic dwarfism; DTDST-related dysplasias; Multiple epiphyseal dysplasia with bilayered patellae; Multiple epiphyseal dysplasia with clubfoot; Multiple epiphyseal dysplasia with double-layered patella; Multiple epiphyseal dysplasia, autosomal recessive; Multiple Epiphyseal Dysplasia, Recessive; Neonatal osseous dysplasia 1; NEONATAL OSSEOUS DYSPLASIA I
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC26A2
Accession:XM_017009191
Location:3UTRS;EXON

Gene Symbol:SLC26A2
Accession:NM_000112
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000282406 CLINVAR
  RCV000304738 CLINVAR
  RCV000335129 CLINVAR
  RCV000389966 CLINVAR
  RCV000401286 CLINVAR
dbSNP (RS) rs143723917 CLINVAR
MedGen C0220726 CLINVAR
  C0265274 CLINVAR
  C1847593 CLINVAR
  C1850554 CLINVAR
  CN120497 CLINVAR
NCBI Gene SLC26A2 CLINVAR
OMIM 222600 CLINVAR
  226900 CLINVAR
  256050 CLINVAR
  600972 CLINVAR
  606718 CLINVAR
SNOMED CT 14870002 CLINVAR
  58561002 CLINVAR