RGD:126743880 Rat Genome Database

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Variant: RGD:126743880 -  Homo sapiens

RGD ID: 126743880
RS ID: rs750138489
ClinVar ID: CV1014748
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPC3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 132,670,291
GRCh38 X 133,536,263
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009286.1:g.454376C>T
NC_000023.11:g.133536263G>A
NC_000023.10:g.132670291G>A
NM_001164619.2:c.1442C>T
More... 		05/29/2020 missense variant uncertain significance Wilms tumor, somatic
Disease Annotations     Click to see Annotation Detail View
nephroblastoma  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:GPC3
Accession:NM_001164619
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 481
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPEAFEIVVRHAKNYTNAMFKNNY
PSLTPQAFEFVGEFFTDVSLYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKL
IMTQVSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDK
YWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQYVQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLK
VAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKG
PEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDD
VPGNSQQATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFFFLVH*

Gene Symbol:GPC3
Accession:NM_004484
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 535
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEK
YQLTARLNMEQLLQSASMELKFLIIQNAAVFQEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSD
INVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVI
NTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVL
LGLFSTIHDSIQYVQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFIS
FYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPK
GRVLDKNLDEEGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDDVPGNSQQATPKDNEISTFHNLGNVHS
PLKLLTSMAISVVCFFFLVH*

Gene Symbol:GPC3
Accession:NM_001164617
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 558
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEK
YQLTARLNMEQLLQSASMELKFLIIQNAAVFQEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSD
INVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVI
NTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVL
LGLFSTIHDSIQYVQKNAGKLTTTETEKKIWHFKYPIFFLCIGLDLQIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAH
VEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEP
VVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDDVPG
NSQQATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFFFLVH*

Gene Symbol:GPC3
Accession:NM_001164618
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 519
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEK
YQLTARLNMEQLLQSAKAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSDINVDDMVNELFDSLFP
VIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGRML
TRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQYVQK
NAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVA
ENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESG
DCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDDVPGNSQQATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFF
FLVH*

Gene Symbol:GPC3
Accession:XM_017029413
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001325684 CLINVAR
dbSNP (RS) rs750138489 CLINVAR
MedGen CN033288 CLINVAR
NCBI Gene GPC3 CLINVAR
OMIM 194070 CLINVAR
  300037 CLINVAR