RGD:12893936 Rat Genome Database

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Variant: RGD:12893936 -  Homo sapiens

RGD ID: 12893936
RS ID: rs200639521
ClinVar ID: CV405981
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LHCGR  STON1-GTF2A1L  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 48,952,813
GRCh38 2 48,725,674
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000233.4:c.383+2T>C
NC_000002.12:g.48725674A>G
NC_000002.11:g.48952813A>G
NM_001198593.2:c.3442-50606A>G
More... 		08/06/2015 intron variant|splice donor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:STON1-GTF2A1L
Accession:NM_001198593
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_017004090
Location:INTRON

Gene Symbol:LHCGR
Accession:NM_000233
Location:INTRON

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

Gene Symbol:LHCGR
Accession:XM_047444292
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_005264309
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_047444291
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_047444293
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_006712015
Location:INTRON

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

Gene Symbol:LHCGR
Accession:XM_011532834
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000480873 CLINVAR
dbSNP (RS) rs200639521 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene LHCGR CLINVAR
  STON1-GTF2A1L CLINVAR
OMIM 152790 CLINVAR