RGD:21405578 Rat Genome Database

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Variant: RGD:21405578 -  Homo sapiens

RGD ID: 21405578
RS ID: rs781989843
ClinVar ID: CV800267
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PD  IKBKG  LOC107181288  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,774,997
GRCh38 X 154,546,782
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000402.4:c.82+7G>C
LRG_70:g.9539C>G
NG_046714.1:g.372C>G
NG_009896.1:g.9539C>G
More... 		02/02/2022 intron variant likely benign|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:G6PD
Accession:NM_001042351
Location:5UTRS;INTRON

Gene Symbol:IKBKG
Accession:NM_001321396
Location:5UTRS;INTRON

Gene Symbol:G6PD
Accession:NM_001360016
Location:5UTRS;INTRON

Gene Symbol:IKBKG
Accession:NM_001377312
Location:5UTRS;INTRON

Gene Symbol:IKBKG
Accession:NM_001377313
Location:5UTRS;INTRON

Gene Symbol:G6PD
Accession:NM_000402
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001099856
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001099857
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001145255
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_003639
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001321397
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001377314
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001377315
Location:INTRON

Gene Symbol:IKBKG
Accession:NR_165197
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002227239 CLINVAR
dbSNP (RS) rs781989843 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 107181288 CLINVAR
  G6PD CLINVAR
  IKBKG CLINVAR
  LOC129929052 CLINVAR
OMIM 300248 CLINVAR
  305900 CLINVAR