RGD:150435369 Rat Genome Database

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Variant: RGD:150435369 -  Homo sapiens

RGD ID: 150435369
RS ID: rs113455986
ClinVar ID: CV1244398
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LHCGR  STON1-GTF2A1L  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 48,921,619
GRCh38 2 48,694,480
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+22800T>G
NC_000002.11:g.48921619T>G
NC_000002.12:g.48694480T>G
NG_008193.2:g.66262A>C
More... 		10/25/2020 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LHCGR
Accession:XM_011532834
Location:5UTRS;EXON

Gene Symbol:LHCGR
Accession:XM_005264309
Location:5UTRS;EXON

Gene Symbol:LHCGR
Accession:XM_006712015
Location:5UTRS;EXON

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_047444291
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_047444293
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_047444292
Location:INTRON

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

Gene Symbol:LHCGR
Accession:XM_017004090
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001665389 CLINVAR
dbSNP (RS) rs113455986 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LHCGR CLINVAR
  STON1-GTF2A1L CLINVAR
OMIM 152790 CLINVAR