RGD:11548536 Rat Genome Database

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Variant: RGD:11548536 -  Homo sapiens

RGD ID: 11548536
RS ID: rs144785707
ClinVar ID: CV257425
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOX18  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 62,680,627
GRCh38 20 64,049,274
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008095.1:g.5353C>T
NC_000020.11:g.64049274G>A
NC_000020.10:g.62680627G>A
NP_060889.1:p.Asp81=
More... 		08/12/2021 synonymous variant benign|likely benign AllHighlyPenetrant; Glomerulonephritis with sparse hair and telangiectases; Hypotrichosis-lymphedema-telangiectasia syndrome; none provided; Telangiectatic membranoproliferative glomerulonephritis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SOX18
Accession:NM_018419
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRSPPGYGAQDDPPARRDCAWAPGHGAAADTRGLAAGPAALAAPAAPASPPSPQRSPPRSPEPGRYGLSPAGRGERQAA
EESRIRRPMNAFMVWAKDERKRLAQQNPDLHNAVLSKMLGKAWKELNAAEKRPFVEEAERLRVQHLRDHPNYKYRPRRKK
QARKARRLEPGLLLPGLAPPQPPPEPFPAASGSARAFRELPPLGAEFDGLGLPTPERSPLDGLEPGEAAFFPPPAAPEDC
ALRPFRAPYAPTELSRDPGGCYGAPLAEALRTAPPAAPLAGLYYGTLGTPGPYPGPLSPPPEAPPLESAEPLGPAADLWA
DVDLTEFDQYLNCSRTRPDAPGLPYHVALAKLGPRAMSCPEESSLISALSDASSAVYYSACISG*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000249216 CLINVAR
  RCV000970761 CLINVAR
  RCV002503945 CLINVAR
dbSNP (RS) rs144785707 CLINVAR
MedGen C3661900 CLINVAR
  C4317151 CLINVAR
  CN169374 CLINVAR
NCBI Gene SOX18 CLINVAR
OMIM 137940 CLINVAR
  601618 CLINVAR
  607823 CLINVAR