RGD:14399445 Rat Genome Database

Variant: RGD:14399445 - Homo sapiens

RGD ID:

14399445

RS ID:

rs1037084691

ClinVar ID:

CV613514

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

WT1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	32,413,577
GRCh38	11	32,392,031

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_525t2:c.737G>C NM_000378.6:c.1337G>C LRG_525:g.48511G>C LRG_525p2:p.Arg246Pro More...	02/23/2023	missense variant	uncertain significance	Acute granulocytic leukemia; Acute myelogenous leukemia; Acute myeloid leukemia, adult; Acute non-lymphocytic leukemia; AML adult; Familial mesangial sclerosis; Leukemia, acute myelogenous, somatic; Leukemia, acute myeloid, somatic; Nephrotic syndrome, early onset with diffuse mesangial sclerosis

Disease Annotations Click to see Annotation Detail View

acute myeloid leukemia (IAGP)

nephrotic syndrome type 4 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Acute myeloid leukemia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	WT1
Accession:	NM_024426
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	463

Amino Acid Sequence (Calculated using NCBI transcript definition)
LDFLLLQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIWAKLGAAEASAERLQGRRSRGASGSEPQQMGSDVRD LNALLPAVPSLGGGGGCALPVSGAAQWAPVLDFAPPGASAYGSLGGPAPPPAPPPPPPPPPHSFIKQEPSWGGAEPHEEQ CLSAFTVHFSGQFTGTAGACRYGPFGPPPPSQASSGQARMFPNAPYLPSCLESQPAIRNQGYSTVTFDGTPSYGHTPSHH AAQFPNHSFKHEDPMGQQGSLGEQQYSVPPPVYGCHTPTDSCTGSQALLLRTPYSSDNLYQMTSQLECMTWNQMNLGATL KGVAAGSSSSVKWTEGQSNHSTGYESDNHTTPILCGAQYRIHTHGVFRGIQDVRRVPGVAPTLVRSASETSEKRPFMCAY PGCNKRYFKLSHLQMHSRKHTGEKPYQCDFKDCERRFSRSDQLKRHQRRHTGVKPFQCKTCQPKFSRSDHLKTHTRTHTG KTSEKPFSCRWPSCQKKFARSDELVRHHNMHQRNMTKLQLAL*

Gene Symbol:	WT1
Accession:	NM_001407045
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	446

Amino Acid Sequence (Calculated using NCBI transcript definition)
LDFLLLQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIWAKLGAAEASAERLQGRRSRGASGSEPQQMGSDVRD LNALLPAVPSLGGGGGCALPVSGAAQWAPVLDFAPPGASAYGSLGGPAPPPAPPPPPPPPPHSFIKQEPSWGGAEPHEEQ CLSAFTVHFSGQFTGTAGACRYGPFGPPPPSQASSGQARMFPNAPYLPSCLESQPAIRNQGYSTVTFDGTPSYGHTPSHH AAQFPNHSFKHEDPMGQQGSLGEQQYSVPPPVYGCHTPTDSCTGSQALLLRTPYSSDNLYQMTSQLECMTWNQMNLGATL KGHSTGYESDNHTTPILCGAQYRIHTHGVFRGIQDVRRVPGVAPTLVRSASETSEKRPFMCAYPGCNKRYFKLSHLQMHS RKHTGEKPYQCDFKDCERRFSRSDQLKRHQRRHTGVKPFQCKTCQPKFSRSDHLKTHTRTHTGKTSEKPFSCRWPSCQKK FARSDELVRHHNMHQRNMTKLQLAL*

Gene Symbol:	WT1
Accession:	NM_000378
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	446

Amino Acid Sequence (Calculated using NCBI transcript definition)
LDFLLLQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIWAKLGAAEASAERLQGRRSRGASGSEPQQMGSDVRD LNALLPAVPSLGGGGGCALPVSGAAQWAPVLDFAPPGASAYGSLGGPAPPPAPPPPPPPPPHSFIKQEPSWGGAEPHEEQ CLSAFTVHFSGQFTGTAGACRYGPFGPPPPSQASSGQARMFPNAPYLPSCLESQPAIRNQGYSTVTFDGTPSYGHTPSHH AAQFPNHSFKHEDPMGQQGSLGEQQYSVPPPVYGCHTPTDSCTGSQALLLRTPYSSDNLYQMTSQLECMTWNQMNLGATL KGHSTGYESDNHTTPILCGAQYRIHTHGVFRGIQDVRRVPGVAPTLVRSASETSEKRPFMCAYPGCNKRYFKLSHLQMHS RKHTGEKPYQCDFKDCERRFSRSDQLKRHQRRHTGVKPFQCKTCQPKFSRSDHLKTHTRTHTGEKPFSCRWPSCQKKFAR SDELVRHHNMHQRNMTKLQLAL*

Gene Symbol:	WT1
Accession:	NM_001407048
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	416

Amino Acid Sequence (Calculated using NCBI transcript definition)
LDFLLLQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIWAKLGAAEASAERLQGRRSRGASGSEPQQMGSDVRD LNALLPAVPSLGGGGGCALPVSGAAQWAPVLDFAPPGASAYGSLGGPAPPPAPPPPPPPPPHSFIKQEPSWGGAEPHEEQ CLSAFTVHFSGQFTGTAGACRYGPFGPPPPSQASSGQARMFPNAPYLPSCLESQPAIRNQGYSTVTFDGTPSYGHTPSHH AAQFPNHSFKHEDPMGQQGSLGEQQYSVPPPVYGCHTPTDSCTGSQALLLRTPYSSDNLYQMTSQLECMTWNQMNLGATL KGHSTGYESDNHTTPILCGAQYRIHTHGVFRGIQDVRRVPGVAPTLVRSASETSEKRPFMCAYPGCNKRYFKLSHLQMHS RKHTGVKPFQCKTCQPKFSRSDHLKTHTRTHTGKTSEKPFSCRWPSCQKKFARSDELVRHHNMHQRNMTKLQLAL*

Gene Symbol:	WT1
Accession:	NM_001407051
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	209

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGQQGSLGEQQYSVPPPVYGCHTPTDSCTGSQALLLRTPYSSDNLYQMTSQLECMTWNQMNLGATLKGVAAGSSSSVKWT EGQSNHSTGYESDNHTTPILCGAQYRIHTHGVFRGIQDVRRVPGVAPTLVRSASETSEKRPFMCAYPGCNKRYFKLSHLQ MHSRKHTGEKPYQCDFKDCERRFSRSDQLKRHQRRHTGVKPFQCKTCQPKFSRSDHLKTHTRTHTGKTSEKPFSCRWPSC QKKFARSDELVRHHNMHQRNMTKLQLAL*

Gene Symbol:	WT1
Accession:	NM_001407047
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	422

Amino Acid Sequence (Calculated using NCBI transcript definition)
LDFLLLQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIWAKLGAAEASAERLQGRRSRGASGSEPQQMGSDVRD LNALLPAVPSLGGGGGCALPVSGAAQWAPVLDFAPPGASAYGSLGGPAPPPAPPPPPPPPPHSFIKQEPSWGGAEPHEEQ CLSAFTVHFSGQFTGTAGACRYGPFGPPPPSQASSGQARMFPNAPYLPSCLESQPAIRNQGEQQYSVPPPVYGCHTPTDS CTGSQALLLRTPYSSDNLYQMTSQLECMTWNQMNLGATLKGVAAGSSSSVKWTEGQSNHSTGYESDNHTTPILCGAQYRI HTHGVFRGIQDVRRVPGVAPTLVRSASETSEKRPFMCAYPGCNKRYFKLSHLQMHSRKHTGEKPYQCDFKDCERRFSRSD QLKRHQRRHTGVKPFQCKTCQPKFSRSDHLKTHTRTHTGEKPFSCRWPSCQKKFARSDELVRHHNMHQRNMTKLQLAL*

Gene Symbol:	WT1
Accession:	NM_001198552
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	229

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEKGYSTVTFDGTPSYGHTPSHHAAQFPNHSFKHEDPMGQQGSLGEQQYSVPPPVYGCHTPTDSCTGSQALLLRTPYSSD NLYQMTSQLECMTWNQMNLGATLKGHSTGYESDNHTTPILCGAQYRIHTHGVFRGIQDVRRVPGVAPTLVRSASETSEKR PFMCAYPGCNKRYFKLSHLQMHSRKHTGEKPYQCDFKDCERRFSRSDQLKRHQRRHTGVKPFQCKTCQPKFSRSDHLKTH TRTHTGKTSEKPFSCRWPSCQKKFARSDELVRHHNMHQRNMTKLQLAL*

Gene Symbol:	WT1
Accession:	NM_001407050
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	405

Amino Acid Sequence (Calculated using NCBI transcript definition)
LDFLLLQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIWAKLGAAEASAERLQGRRSRGASGSEPQQMGSDVRD LNALLPAVPSLGGGGGCALPVSGAAQWAPVLDFAPPGASAYGSLGGPAPPPAPPPPPPPPPHSFIKQEPSWGGAEPHEEQ CLSAFTVHFSGQFTGTAGACRYGPFGPPPPSQASSGQARMFPNAPYLPSCLESQPAIRNQGEQQYSVPPPVYGCHTPTDS CTGSQALLLRTPYSSDNLYQMTSQLECMTWNQMNLGATLKGHSTGYESDNHTTPILCGAQYRIHTHGVFRGIQDVRRVPG VAPTLVRSASETSEKRPFMCAYPGCNKRYFKLSHLQMHSRKHTGEKPYQCDFKDCERRFSRSDQLKRHQRRHTGVKPFQC KTCQPKFSRSDHLKTHTRTHTGKTSEKPFSCRWPSCQKKFARSDELVRHHNMHQRNMTKLQLAL*

Gene Symbol:	WT1
Accession:	NM_024424
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	463

Amino Acid Sequence (Calculated using NCBI transcript definition)
LDFLLLQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIWAKLGAAEASAERLQGRRSRGASGSEPQQMGSDVRD LNALLPAVPSLGGGGGCALPVSGAAQWAPVLDFAPPGASAYGSLGGPAPPPAPPPPPPPPPHSFIKQEPSWGGAEPHEEQ CLSAFTVHFSGQFTGTAGACRYGPFGPPPPSQASSGQARMFPNAPYLPSCLESQPAIRNQGYSTVTFDGTPSYGHTPSHH AAQFPNHSFKHEDPMGQQGSLGEQQYSVPPPVYGCHTPTDSCTGSQALLLRTPYSSDNLYQMTSQLECMTWNQMNLGATL KGVAAGSSSSVKWTEGQSNHSTGYESDNHTTPILCGAQYRIHTHGVFRGIQDVRRVPGVAPTLVRSASETSEKRPFMCAY PGCNKRYFKLSHLQMHSRKHTGEKPYQCDFKDCERRFSRSDQLKRHQRRHTGVKPFQCKTCQPKFSRSDHLKTHTRTHTG EKPFSCRWPSCQKKFARSDELVRHHNMHQRNMTKLQLAL*

Gene Symbol:	WT1
Accession:	NM_001198551
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	246

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEKGYSTVTFDGTPSYGHTPSHHAAQFPNHSFKHEDPMGQQGSLGEQQYSVPPPVYGCHTPTDSCTGSQALLLRTPYSSD NLYQMTSQLECMTWNQMNLGATLKGVAAGSSSSVKWTEGQSNHSTGYESDNHTTPILCGAQYRIHTHGVFRGIQDVRRVP GVAPTLVRSASETSEKRPFMCAYPGCNKRYFKLSHLQMHSRKHTGEKPYQCDFKDCERRFSRSDQLKRHQRRHTGVKPFQ CKTCQPKFSRSDHLKTHTRTHTGEKPFSCRWPSCQKKFARSDELVRHHNMHQRNMTKLQLAL*

Gene Symbol:	WT1
Accession:	NM_001367854
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	67

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCAYPGCNKRYFKLSHLQMHSRKHTGEKPYQCDFKDCERRFSRSDQLKRHQRRHTGVKPFQCKTCQPKFSRSDHLKTHTR THTGKTSEKPFSCRWPSCQKKFARSDELVRHHNMHQRNMTKLQLAL*

Gene Symbol:	WT1
Accession:	NM_001407044
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	461

Amino Acid Sequence (Calculated using NCBI transcript definition)
LDFLLLQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIWAKLGAAEASAERLQGRRSRGASGSEPQQMGSDVRD LNALLPAVPSLGGGGGCALPVSGAAQWAPVLDFAPPGASAYGSLGGPAPPPAPPPPPPPPPHSFIKQEPSWGGAEPHEEQ CLSAFTVHFSGQFTGTAGACRYGPFGPPPPSQASSGQARMFPNAPYLPSCLESQPAIRNQGYSTVTFDGTPSYGHTPSHH AAQFPNHSFKHEDPMGQQGSLGEQQYSVPPPVYGCHTPTDSCTGSQALLLRTPYSSDNLYQMTSQLECMTWNQMNLGATL KGVAAGSSSSVKWTEGQSNTGYESDNHTTPILCGAQYRIHTHGVFRGIQDVRRVPGVAPTLVRSASETSEKRPFMCAYPG CNKRYFKLSHLQMHSRKHTGEKPYQCDFKDCERRFSRSDQLKRHQRRHTGVKPFQCKTCQPKFSRSDHLKTHTRTHTGEK PFSCRWPSCQKKFARSDELVRHHNMHQRNMTKLQLAL*

Gene Symbol:	WT1
Accession:	NR_176266
Location:	EXON;NON-CODING

Gene Symbol:	WT1
Accession:	NR_160306
Location:	EXON;NON-CODING

Gene Symbol:	WT1
Accession:	NM_001407049
Location:	INTRON

Gene Symbol:	WT1
Accession:	NM_001407046
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25145932	PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000766274	CLINVAR
	RCV003152731	CLINVAR
dbSNP (RS)	rs1037084691	CLINVAR
MedGen	C0023467	CLINVAR
	C3151568	CLINVAR
NCBI Gene	WT1	CLINVAR
OMIM	256370	CLINVAR
	601626	CLINVAR
	607102	CLINVAR
SNOMED CT	17788007	CLINVAR
	236383002	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:14399445 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:14399445 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar