RGD:28904126 Rat Genome Database

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Variant: RGD:28904126 -  Homo sapiens

RGD ID: 28904126
RS ID: rs1019095754
ClinVar ID: CV865881
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RET  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 43,625,603
GRCh38 10 43,130,155
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.11:g.43130155T>G
NC_000010.10:g.43625603T>G
NM_020975.4:c.*1886T>G
LRG_518t1:c.*1886T>G
More... 		01/13/2018 3 prime utr variant uncertain significance Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; HEREDITARY RENAL APLASIA; Hirschsprung disease 1; HSCR 1; Medullary paraganglioma; RENAL APLASIA; RET-Related Hirschsprung Disease; Urogenital adysplasia, hereditary
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RET
Accession:NM_001406785
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406786
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406744
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406766
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406771
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406781
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406762
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406778
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406775
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_020975
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406759
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406760
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406769
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406790
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406788
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406765
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406774
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406773
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406779
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406776
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406789
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406792
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406787
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406770
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406772
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406783
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406784
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406793
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406743
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406782
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406761
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406780
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406767
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406791
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406764
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406768
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406763
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406794
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001406777
Location:3UTRS;EXON

Gene Symbol:RET
Accession:NM_001355216
Location:INTRON

Gene Symbol:RET
Accession:NM_020630
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001105443 CLINVAR
  RCV001105444 CLINVAR
  RCV001106585 CLINVAR
  RCV001106586 CLINVAR
dbSNP (RS) rs1019095754 CLINVAR
MedGen C0027662 CLINVAR
  C0031511 CLINVAR
  C1619700 CLINVAR
  C3888239 CLINVAR
NCBI Gene RET CLINVAR
OMIM 142623 CLINVAR
  164761 CLINVAR
  171300 CLINVAR
  191830 CLINVAR
SNOMED CT 46724008 CLINVAR