RGD:8561669 Rat Genome Database

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Variant: RGD:8561669 -  Homo sapiens

RGD ID: 8561669
RS ID: rs137852349
ClinVar ID: CV25455
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PD  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 153,764,211
GRCh38 X 154,535,996
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.298T>C
NG_009015.2:g.16577T>C
NC_000023.11:g.154535996A>G
NC_000023.10:g.153764211A>G
More... 		08/12/2022 missense variant pathogenic|likely pathogenic|other Class I glucose-6-phosphate dehydrogenase deficiency; Favism, susceptibility to; Hemolytic anemia due to G6PD deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:G6PD
Accession:NM_001042351
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGHARSRLTVADI
RKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMS
QIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEP
FGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATK
GYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAV
YTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPI
PYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL*

Gene Symbol:G6PD
Accession:NM_000402
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRGSAPGNGRTLRGCERGGRRRRSADSVMAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYP
TIWWLFRDGLLPENTFIVGHARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHL
GSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQN
LMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVK
VLKCISEVQANNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVR
LQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQM
HFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL*

Gene Symbol:G6PD
Accession:NM_001360016
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGHARSRLTVADI
RKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMS
QIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEP
FGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATK
GYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAV
YTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPI
PYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL*
Variant Samples
Additional References at PubMed
PMID:7577654   PMID:7825590   PMID:17233850   PMID:20621077   PMID:21446359   PMID:25741868   PMID:28492532   PMID:29300386   PMID:32425388   PMID:33069889  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011160 CLINVAR
  RCV001264782 CLINVAR
dbSNP (RS) rs137852349 CLINVAR
MedGen C2720289 CLINVAR
NCBI Gene G6PD CLINVAR
OMIM 300908 CLINVAR
  305900 CLINVAR
OMIM Allele 305900.0061 CLINVAR