RGD:13468396 Rat Genome Database

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Variant: RGD:13468396 -  Homo sapiens

RGD ID: 13468396
RS ID: rs756844729
ClinVar ID: CV471717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPC3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 132,887,780
GRCh38 X 133,753,753
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_505:g.236887G>T
NG_009286.1:g.236887G>T
NC_000023.11:g.133753753C>A
NC_000023.10:g.132887780C>A
More...
11/17/2020 missense variant likely benign|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: R to L (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPEAFEIVVRHAKNYTNAMFKNNY
PSLTPQAFEFVGEFFTDVSLYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKL
IMTQVSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGLMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDK
YWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQYVQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLK
VAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKG
PEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDD
APGNSQQATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFFFLVH*

Gene Symbol:GPC3
Accession:NM_001164618
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEK
YQLTARLNMEQLLQSAKAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSDINVDDMVNELFDSLFP
VIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGLML
TRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQYVQK
NAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVA
ENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESG
DCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDDAPGNSQQATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFF
FLVH*

Gene Symbol:GPC3
Accession:NM_004484
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 254
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEK
YQLTARLNMEQLLQSASMELKFLIIQNAAVFQEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSD
INVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVI
NTTDHLKFSKDCGLMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVL
LGLFSTIHDSIQYVQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFIS
FYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPK
GRVLDKNLDEEGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDDAPGNSQQATPKDNEISTFHNLGNVHS
PLKLLTSMAISVVCFFFLVH*

Gene Symbol:GPC3
Accession:NM_001164617
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 254
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEK
YQLTARLNMEQLLQSASMELKFLIIQNAAVFQEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSD
INVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVI
NTTDHLKFSKDCGLMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVL
LGLFSTIHDSIQYVQKNAGKLTTTETEKKIWHFKYPIFFLCIGLDLQIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAH
VEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEP
VVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGMIKVKNQLRFLAELAYDLDVDDAPG
NSQQATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFFFLVH*

Gene Symbol:GPC3
Accession:XM_017029413
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 254
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEK
YQLTARLNMEQLLQSASMELKFLIIQNAAVFQEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSD
INVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVI
NTTDHLKFSKDCGLMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVL
LGLFSTIHDSIQYVQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFIS
FYSALPGYICSHSPVAENDTLCWNGQELVERYIQKNTEEPFLPLFTTYSRDATQEKNPPGTLFPVSDLPLSQTCLESVKS
DCLGGL*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000558407 CLINVAR
dbSNP (RS) rs756844729 CLINVAR
MedGen CN033288 CLINVAR
NCBI Gene GPC3 CLINVAR
OMIM 194070 CLINVAR
  300037 CLINVAR