RGD:150473066 Rat Genome Database

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Variant: RGD:150473066 -  Homo sapiens

RGD ID: 150473066
RS ID: rs6759468
ClinVar ID: CV1281351
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LHCGR  STON1-GTF2A1L  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 48,956,417
GRCh38 2 48,729,278
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.234-51G>A
NM_001198593.2:c.3442-47002C>T
NG_033050.2:g.204354C>T
NG_008193.2:g.31464G>A
More... 		08/12/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LHCGR
Accession:XM_005264309
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_011532834
Location:INTRON

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

Gene Symbol:LHCGR
Accession:XM_047444291
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_006712015
Location:INTRON

Gene Symbol:LHCGR
Accession:NM_000233
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_017004090
Location:INTRON

Gene Symbol:LHCGR
Accession:XM_047444293
Location:INTRON

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

Gene Symbol:LHCGR
Accession:XM_047444292
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001713469 CLINVAR
dbSNP (RS) rs6759468 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LHCGR CLINVAR
  STON1-GTF2A1L CLINVAR
OMIM 152790 CLINVAR