RGD:8561658 Rat Genome Database

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Variant: RGD:8561658 -  Homo sapiens

RGD ID: 8561658
RS ID: rs137852341
ClinVar ID: CV25443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PD  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,763,476
GRCh38 X 154,535,261
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.482G>T
NG_009015.2:g.17312G>T
NC_000023.11:g.154535261C>A
NC_000023.10:g.153763476C>A
More... 		01/26/2023 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Class I glucose-6-phosphate dehydrogenase deficiency; Favism, susceptibility to; Hemolytic anemia due to G6PD deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:G6PD
Accession:NM_001042351
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADI
RKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLVSQANRLFYLALPPTVYEAVTKNIHESCMS
QIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEP
FGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATK
GYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAV
YTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPI
PYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL*

Gene Symbol:G6PD
Accession:NM_000402
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRGSAPGNGRTLRGCERGGRRRRSADSVMAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYP
TIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHL
VSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQN
LMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVK
VLKCISEVQANNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVR
LQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQM
HFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL*

Gene Symbol:G6PD
Accession:NM_001360016
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADI
RKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQRLNSHMNALHLVSQANRLFYLALPPTVYEAVTKNIHESCMS
QIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEP
FGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATK
GYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAV
YTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPI
PYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL*
Variant Samples
Additional References at PubMed
PMID:8471773   PMID:9589612   PMID:11243133   PMID:11400791   PMID:15727905   PMID:16329560   PMID:16607506   PMID:25536053   PMID:25741868   PMID:25775246   PMID:28492532   PMID:29300386  
PMID:30045279   PMID:30077011   PMID:31489982   PMID:31863082   PMID:35840819  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011147 CLINVAR
  RCV000821638 CLINVAR
  RCV001810843 CLINVAR
  RCV002496324 CLINVAR
  RCV003460457 CLINVAR
dbSNP (RS) rs137852341 CLINVAR
MedGen C1970028 CLINVAR
  C2720289 CLINVAR
  C3661900 CLINVAR
NCBI Gene G6PD CLINVAR
OMIM 300908 CLINVAR
  305900 CLINVAR
  611162 CLINVAR
OMIM Allele 305900.0045 CLINVAR