RGD:13625636 Rat Genome Database

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Variant: RGD:13625636 -  Homo sapiens

RGD ID: 13625636
RS ID: rs1015207544
ClinVar ID: CV534603
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPC3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 132,730,473
GRCh38 X 133,596,445
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004484.3:c.1568T>C
LRG_505t1:c.1568T>C
LRG_505:g.394194T>C
LRG_505p1:p.Leu523Pro
More...
10/14/2020 missense variant uncertain significance Bulldog syndrome; Dysplasia gigantism syndrome, X-linked; Golabi-Rosen syndrome; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome type 1; 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: L to P (nonsynonymous)
Amino Acid Position: 469
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPEAFEIVVRHAKNYTNAMFKNNY
PSLTPQAFEFVGEFFTDVSLYILGSDINVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKL
IMTQVSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDK
YWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQYVQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLK
VAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKG
PEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGMIKVKNQLRFPAELAYDLDVDD
APGNSQQATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFFFLVH*

Gene Symbol:GPC3
Accession:NM_001164618
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 507
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEK
YQLTARLNMEQLLQSAKAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSDINVDDMVNELFDSLFP
VIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVINTTDHLKFSKDCGRML
TRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVLLGLFSTIHDSIQYVQK
NAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVA
ENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESG
DCGDDEDECIGGSGDGMIKVKNQLRFPAELAYDLDVDDAPGNSQQATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFF
FLVH*

Gene Symbol:GPC3
Accession:NM_004484
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 523
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEK
YQLTARLNMEQLLQSASMELKFLIIQNAAVFQEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSD
INVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVI
NTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVL
LGLFSTIHDSIQYVQKNAGKLTTTIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAHVEHEETLSSRRRELIQKLKSFIS
FYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEPVVSQIIDKLKHINQLLRTMSMPK
GRVLDKNLDEEGFESGDCGDDEDECIGGSGDGMIKVKNQLRFPAELAYDLDVDDAPGNSQQATPKDNEISTFHNLGNVHS
PLKLLTSMAISVVCFFFLVH*

Gene Symbol:GPC3
Accession:NM_001164617
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 546
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGTVRTACLVVAMLLSLDFPGQAQPPPPPPDATCHQVRSFFQRLQPGLKWVPETPVPGSDLQVCLPKGPTCCSRKMEEK
YQLTARLNMEQLLQSASMELKFLIIQNAAVFQEAFEIVVRHAKNYTNAMFKNNYPSLTPQAFEFVGEFFTDVSLYILGSD
INVDDMVNELFDSLFPVIYTQLMNPGLPDSALDINECLRGARRDLKVFGNFPKLIMTQVSKSLQVTRIFLQALNLGIEVI
NTTDHLKFSKDCGRMLTRMWYCSYCQGLMMVKPCGGYCNVVMQGCMAGVVEIDKYWREYILSLEELVNGMYRIYDMENVL
LGLFSTIHDSIQYVQKNAGKLTTTETEKKIWHFKYPIFFLCIGLDLQIGKLCAHSQQRQYRSAYYPEDLFIDKKVLKVAH
VEHEETLSSRRRELIQKLKSFISFYSALPGYICSHSPVAENDTLCWNGQELVERYSQKAARNGMKNQFNLHELKMKGPEP
VVSQIIDKLKHINQLLRTMSMPKGRVLDKNLDEEGFESGDCGDDEDECIGGSGDGMIKVKNQLRFPAELAYDLDVDDAPG
NSQQATPKDNEISTFHNLGNVHSPLKLLTSMAISVVCFFFLVH*

Gene Symbol:GPC3
Accession:XM_017029413
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000653749 CLINVAR
  RCV000766071 CLINVAR
dbSNP (RS) rs1015207544 CLINVAR
MedGen CN033288 CLINVAR
NCBI Gene GPC3 CLINVAR
OMIM 194070 CLINVAR
  300037 CLINVAR
  312870 CLINVAR