RGD:11583795 Rat Genome Database

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Variant: RGD:11583795 -  Homo sapiens

RGD ID: 11583795
RS ID: rs62137532
ClinVar ID: CV286696
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LHCGR  STON1-GTF2A1L  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 48,914,615
GRCh38 2 48,687,476
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
NC_000002.12:g.48687476C>G
NC_000002.11:g.48914615C>G
NG_033050.2:g.162552C>G
NG_008193.2:g.73266G>C
More... 		06/26/2018 3 prime utr variant benign childhood <1 / 1 000 000 Familial male-limited precocious puberty; Familial Testotoxicosis (subtype); HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT; LEYDIG CELL HYPOPLASIA WITH MALE PSEUDOHERMAPHRODITISM; LEYDIG CELL HYPOPLASIA, COMPLETE; Leydig cell hypoplasia, type 1; none provided; Pubertas Praecox; Testotoxicosis; TESTOTOXICOSIS, FAMILIAL
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:LHCGR
Accession:XM_006712015
Location:3UTRS;EXON

Gene Symbol:LHCGR
Accession:XM_047444291
Location:3UTRS;EXON

Gene Symbol:LHCGR
Accession:XM_011532834
Location:3UTRS;EXON

Gene Symbol:LHCGR
Accession:XM_017004090
Location:3UTRS;EXON

Gene Symbol:LHCGR
Accession:XM_047444292
Location:3UTRS;EXON

Gene Symbol:LHCGR
Accession:XM_047444293
Location:3UTRS;EXON

Gene Symbol:LHCGR
Accession:NM_000233
Location:3UTRS;EXON

Gene Symbol:LHCGR
Accession:XM_005264309
Location:3UTRS;EXON

Gene Symbol:STON1-GTF2A1L
Accession:NM_172311
Location:INTRON

Gene Symbol:STON1-GTF2A1L
Accession:NM_001198593
Location:INTRON

Gene Symbol:STON1-GTF2A1L
Accession:NM_001198594
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000269092 CLINVAR
  RCV000324261 CLINVAR
  RCV000363622 CLINVAR
  RCV001598656 CLINVAR
dbSNP (RS) rs62137532 CLINVAR
MedGen C0266432 CLINVAR
  C0342549 CLINVAR
  C0948896 CLINVAR
  C3661900 CLINVAR
NCBI Gene LHCGR CLINVAR
  STON1-GTF2A1L CLINVAR
OMIM 152790 CLINVAR
  176410 CLINVAR
  238320 CLINVAR
SNOMED CT 237818003 CLINVAR
  56212008 CLINVAR