RGD:127261315 Rat Genome Database

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Variant: RGD:127261315 -  Homo sapiens

RGD ID: 127261315
RS ID: rs2148331380
ClinVar ID: CV1087246
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PD  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 153,763,515
GRCh38 X 154,535,300
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001042351.3:c.353A>C
NM_001360016.2:c.353A>C
NM_000402.4:c.443A>C
NG_009015.2:g.17273A>C
More... 		04/28/2021 missense variant likely pathogenic Class I glucose-6-phosphate dehydrogenase deficiency; Favism, susceptibility to; Hemolytic anemia due to G6PD deficiency
Disease Annotations     Click to see Annotation Detail View
favism  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:G6PD
Accession:NM_001042351
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADI
RKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASSQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMS
QIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEP
FGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATK
GYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAV
YTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPI
PYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL*

Gene Symbol:G6PD
Accession:NM_000402
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRGSAPGNGRTLRGCERGGRRRRSADSVMAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYP
TIWWLFRDGLLPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASSQRLNSHMNALHL
GSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQN
LMVLRFANRIFGPIWNRDNIACVILTFKEPFGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVK
VLKCISEVQANNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVR
LQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQM
HFVRSDELREAWRIFTPLLHQIELEKPKPIPYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL*

Gene Symbol:G6PD
Accession:NM_001360016
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGLLPENTFIVGYARSRLTVADI
RKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASSQRLNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMS
QIGWNRIIVEKPFGRDLQSSDRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEP
FGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQANNVVLGQYVGNPDGEGEATK
GYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGKALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAV
YTKMMTKKPGMFFNPEESELDLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPI
PYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001420429 CLINVAR
dbSNP (RS) rs2148331380 CLINVAR
MedGen C2720289 CLINVAR
NCBI Gene G6PD CLINVAR
OMIM 300908 CLINVAR
  305900 CLINVAR