RGD:127234717 Rat Genome Database

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Variant: RGD:127234717 -  Homo sapiens

RGD ID: 127234717
RS ID: rs2104451655
ClinVar ID: CV1108945
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LHCGR  STON1-GTF2A1L  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 48,950,592
GRCh38 2 48,723,453
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001198593.2:c.3441+51773C>G
NM_000233.4:c.536+3G>C
NG_033050.2:g.198529C>G
NG_008193.2:g.37289G>C
More... 		05/28/2021 intron variant likely pathogenic HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT; LEYDIG CELL HYPOPLASIA WITH MALE PSEUDOHERMAPHRODITISM; LEYDIG CELL HYPOPLASIA, COMPLETE; Leydig cell hypoplasia, type 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LHCGR
Accession:XM_011532834
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_047444292
Location:INTRON

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

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

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

Gene Symbol:LHCGR
Accession:NM_000233
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_006712015
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_005264309
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_047444291
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_017004090
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_047444293
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001449851 CLINVAR
dbSNP (RS) rs2104451655 CLINVAR
MedGen C0266432 CLINVAR
NCBI Gene LHCGR CLINVAR
  STON1-GTF2A1L CLINVAR
OMIM 152790 CLINVAR
  238320 CLINVAR
SNOMED CT 56212008 CLINVAR