RGD:11347572 Rat Genome Database

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Variant: RGD:11347572 -  Homo sapiens

RGD ID: 11347572
RS ID: rs765463636
ClinVar ID: CV240788
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RET  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 43,602,028
GRCh38 10 43,106,580
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_518t1:c.1063+9G>A
LRG_518:g.34512G>A
NG_007489.1:g.34512G>A
NC_000010.11:g.43106580G>A
More... 		08/15/2023 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance 1-9 / 100 000|the prevalence of men 2 has been estimated at 1:35,000 [delellis et al 2004]. AllHighlyPenetrant; Cancer predisposition; Chromaffin cell tumor; Chromaffin paraganglioma; Chromaffin tumor; Chromaffinoma; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; HEREDITARY RENAL APLASIA; Hirschsprung disease 1; HSCR 1; Medullary paraganglioma; MEN 2A; MEN 2B; MEN IIB; MEN-2A syndrome; Mucosal neuroma syndrome; Multiple endocrine neoplasia, type 3; Multiple endocrine neoplasia, type 3 (formerly); MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MULTIPLE ENDOCRINE NEOPLASIA, TYPE III; Neoplastic Syndromes, Hereditary; NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS; none provided; Pheochromocytoma and amyloid producing medullary thyroid carcinoma; PTC syndrome; RENAL APLASIA; RET-Related Hirschsprung Disease; Sipple syndrome; Tumor predisposition; Urogenital adysplasia, hereditary; Wagenmann-froboese syndrome
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RET
Accession:NM_001406743
Location:INTRON

Gene Symbol:RET
Accession:NM_001406781
Location:INTRON

Gene Symbol:RET
Accession:NM_001406774
Location:INTRON

Gene Symbol:RET
Accession:NM_001406767
Location:INTRON

Gene Symbol:RET
Accession:NM_001406792
Location:INTRON

Gene Symbol:RET
Accession:NM_001406765
Location:INTRON

Gene Symbol:RET
Accession:NM_001406763
Location:INTRON

Gene Symbol:RET
Accession:NM_001406780
Location:INTRON

Gene Symbol:RET
Accession:NM_001406791
Location:INTRON

Gene Symbol:RET
Accession:NM_020975
Location:INTRON

Gene Symbol:RET
Accession:NM_001406760
Location:INTRON

Gene Symbol:RET
Accession:NM_001406761
Location:INTRON

Gene Symbol:RET
Accession:NM_001406788
Location:INTRON

Gene Symbol:RET
Accession:NM_001406783
Location:INTRON

Gene Symbol:RET
Accession:NM_001406766
Location:INTRON

Gene Symbol:RET
Accession:NM_001406784
Location:INTRON

Gene Symbol:RET
Accession:NM_001406794
Location:INTRON

Gene Symbol:RET
Accession:NM_001355216
Location:INTRON

Gene Symbol:RET
Accession:NM_001406773
Location:INTRON

Gene Symbol:RET
Accession:NM_001406772
Location:INTRON

Gene Symbol:RET
Accession:NM_001406771
Location:INTRON

Gene Symbol:RET
Accession:NM_020630
Location:INTRON

Gene Symbol:RET
Accession:NM_001406777
Location:INTRON

Gene Symbol:RET
Accession:NM_001406768
Location:INTRON

Gene Symbol:RET
Accession:NM_001406770
Location:INTRON

Gene Symbol:RET
Accession:NM_001406759
Location:INTRON

Gene Symbol:RET
Accession:NM_001406764
Location:INTRON

Gene Symbol:RET
Accession:NM_001406790
Location:INTRON

Gene Symbol:RET
Accession:NM_001406782
Location:INTRON

Gene Symbol:RET
Accession:NM_001406785
Location:INTRON

Gene Symbol:RET
Accession:NM_001406778
Location:INTRON

Gene Symbol:RET
Accession:NM_001406793
Location:INTRON

Gene Symbol:RET
Accession:NM_001406762
Location:INTRON

Gene Symbol:RET
Accession:NM_001406776
Location:INTRON

Gene Symbol:RET
Accession:NM_001406789
Location:INTRON

Gene Symbol:RET
Accession:NM_001406775
Location:INTRON

Gene Symbol:RET
Accession:NM_001406786
Location:INTRON

Gene Symbol:RET
Accession:NM_001406769
Location:INTRON

Gene Symbol:RET
Accession:NM_001406779
Location:INTRON

Gene Symbol:RET
Accession:NM_001406744
Location:INTRON

Gene Symbol:RET
Accession:NM_001406787
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7704557   PMID:22395866   PMID:23527089   PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000232595 CLINVAR
  RCV000409561 CLINVAR
  RCV000412024 CLINVAR
  RCV000454826 CLINVAR
  RCV001103996 CLINVAR
  RCV001103997 CLINVAR
  RCV001103998 CLINVAR
  RCV001103999 CLINVAR
  RCV001567894 CLINVAR
  RCV002256169 CLINVAR
  RCV003897561 CLINVAR
dbSNP (RS) rs765463636 CLINVAR
MedGen C0025268 CLINVAR
  C0025269 CLINVAR
  C0027662 CLINVAR
  C0027672 CLINVAR
  C0031511 CLINVAR
  C1619700 CLINVAR
  C3661900 CLINVAR
  C3888239 CLINVAR
  C4048306 CLINVAR
  CN169374 CLINVAR
NCBI Gene RET CLINVAR
OMIM 142623 CLINVAR
  162300 CLINVAR
  164761 CLINVAR
  171300 CLINVAR
  171400 CLINVAR
  191830 CLINVAR
SNOMED CT 46724008 CLINVAR
  6153000 CLINVAR
  61808009 CLINVAR
  699346009 CLINVAR