RGD:28899887 Rat Genome Database

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Variant: RGD:28899887 -  Homo sapiens

RGD ID: 28899887
RS ID: rs1268210330
ClinVar ID: CV885133
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LHCGR  STON1-GTF2A1L  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 48,914,644
GRCh38 2 48,687,505
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008193.2:g.73237T>C
NC_000002.12:g.48687505A>G
NC_000002.11:g.48914644A>G
NM_000233.3:c.*192T>C
More... 		01/12/2018 3 prime utr variant uncertain significance 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; Pubertas Praecox; Testotoxicosis; TESTOTOXICOSIS, FAMILIAL
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LHCGR
Accession:XM_047444293
Location:3UTRS;EXON

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

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

Gene Symbol:LHCGR
Accession:XM_005264309
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_006712015
Location:3UTRS;EXON

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001142542 CLINVAR
  RCV001142543 CLINVAR
dbSNP (RS) rs1268210330 CLINVAR
MedGen C0266432 CLINVAR
  C0342549 CLINVAR
NCBI Gene LHCGR CLINVAR
  STON1-GTF2A1L CLINVAR
OMIM 152790 CLINVAR
  176410 CLINVAR
  238320 CLINVAR
SNOMED CT 237818003 CLINVAR
  56212008 CLINVAR