RGD:8616749 Rat Genome Database

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Variant: RGD:8616749 -  Homo sapiens

RGD ID: 8616749
RS ID: rs386833493
ClinVar ID: CV70651
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC26A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 149,360,313
GRCh38 5 149,980,750
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_007147.2:g.21868C>T
NC_000005.10:g.149980750C>T
NC_000005.9:g.149360313C>T
NP_000103.2:p.Ala386Val
More... 		09/26/2020 missense|missense variant pathogenic|likely pathogenic neonatal/infancy 1-9 / 100 000 Achondrogenesis Fraccaro type; Atelosteogenesis type 2; Atelosteogenesis type II; Diastrophic dwarfism; Diastrophic dysplasia; Multiple epiphyseal dysplasia type 4; 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:NM_000112
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 386
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSESKEQHNVSPRDSAEGNDSYPSGIHLELQRESSTDFKQFETNDQCRPYHRILIERQEKSDTNFKEFVIKKLQKNCQC
SPAKAKNMILGFLPVLQWLPKYDLKKNILGDVMSGLIVGILLVPQSIAYSLLAGQEPVYGLYTSFFASIIYFLLGTSRHI
SVGIFGVLCLMIGETVDRELQKAGYDNAHSAPSLGMVSNGSTLLNHTSDRICDKSCYAIMVGSTVTFIAGVYQVAMGFFQ
VGFVSVYLSDALLSGFVTGASFTILTSQAKYLLGLNLPRTNGVGSLITTWIHVFRNIHKTNLCDLITSLLCLLVLLPTKE
LNEHFKSKLKAPIPIELVVVVAATLASHFGKLHENYNSSIAGHIPTGFMPPKVPEWNLIPSVAVDVIAISIIGFAITVSL
SEMFAKKHGYTVKANQEMYAIGFCNIIPSFFHCFTTSAALAKTLVKESTGCHTQLSGVVTALVLLLVLLVIAPLFYSLQK
SVLGVITIVNLRGALRKFRDLPKMWSISRMDTVIWFVTMLSSALLSTEIGLLVGVCFSIFCVILRTQKPKSSLLGLVEES
EVFESVSAYKNLQIKPGIKIFRFVAPLYYINKECFKSALYKQTVNPILIKVAWKKAAKRKIKEKVVTLGGIQDEMSVQLS
HDPLELHTIVIDCSAIQFLDTAGIHTLKEVRRDYEAIGIQVLLAQCNPTVRDSLTNGEYCKKEEENLLFYSVYEAMAFAE
VSKNQKGVCVPNGLSLSSD*

Gene Symbol:SLC26A2
Accession:XM_017009191
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 386
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSESKEQHNVSPRDSAEGNDSYPSGIHLELQRESSTDFKQFETNDQCRPYHRILIERQEKSDTNFKEFVIKKLQKNCQC
SPAKAKNMILGFLPVLQWLPKYDLKKNILGDVMSGLIVGILLVPQSIAYSLLAGQEPVYGLYTSFFASIIYFLLGTSRHI
SVGIFGVLCLMIGETVDRELQKAGYDNAHSAPSLGMVSNGSTLLNHTSDRICDKSCYAIMVGSTVTFIAGVYQVAMGFFQ
VGFVSVYLSDALLSGFVTGASFTILTSQAKYLLGLNLPRTNGVGSLITTWIHVFRNIHKTNLCDLITSLLCLLVLLPTKE
LNEHFKSKLKAPIPIELVVVVAATLASHFGKLHENYNSSIAGHIPTGFMPPKVPEWNLIPSVAVDVIAISIIGFAITVSL
SEMFAKKHGYTVKANQEMYAIGFCNIIPSFFHCFTTSAALAKTLVKESTGCHTQLSGVVTALVLLLVLLVIAPLFYSLQK
SVLGVITIVNLRGALRKFRDLPKMWSISRMDTVIWFVTMLSSALLSTEIGLLVGVCFSIFCVILRTQKPKSSLLGLVEES
EVFESVSAYKNLQIKPGIKIFRFVAPLYYINKECFKSALYKQTVNPILIKVAWKKAAKRKIKEKVVTLGGIQDEMSVQLS
HDPLELHTIVIDCSAIQFLDTAGIHTLKEVRRDYEAIGIQVLLAQCNPTVRDSLTNGEYCKKEEENLLFYSVYEAMAFAE
VSKNQKGVCVPNGLSLSSD*
Variant Samples
Additional References at PubMed
PMID:11241838   PMID:20219950   PMID:23369989   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000049421 CLINVAR
  RCV001388086 CLINVAR
  RCV003474627 CLINVAR
dbSNP (RS) rs386833493 CLINVAR
MedGen C0220726 CLINVAR
  C0265274 CLINVAR
NCBI Gene SLC26A2 CLINVAR
OMIM 222600 CLINVAR
  226900 CLINVAR
  256050 CLINVAR
  600972 CLINVAR
  606718 CLINVAR
SNOMED CT 14870002 CLINVAR
  58561002 CLINVAR