RGD:8599359 Rat Genome Database

Variant: RGD:8599359 - Homo sapiens

RGD ID:

8599359

RS ID:

rs121918454

ClinVar ID:

CV28364

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PTPN11

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	12	112,888,199
GRCh38	12	112,450,395

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	Age of Onset	Prevalence	Trait Synonyms
NG_007459.1:g.36664C>G NC_000012.12:g.112450395C>G NC_000012.11:g.112888199C>G NP_002825.3:p.Ala72Gly More...	01/21/2020	missense\|missense variant	pathogenic\|likely pathogenic	neonatal/infancy	1 in 1,000-2,500	Female pseudo-Turner syndrome; Juvenile myelomonocytic leukemia; KRAS gene related Noonan syndrome; LENTIGINOSIS, CARDIOMYOPATHIC; LEOPARD syndrome 1; LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC; Metachondromatosis; MULTIPLE LENTIGINES SYNDROME; none provided; Noonan spectrum disorder; Noonan's syndrome; Pseudo-Turner syndrome; rasopathies; Turner phenotype with normal karyotype; Turner Syndrome, Male

Disease Annotations Click to see Annotation Detail View

juvenile myelomonocytic leukemia (IAGP)

metachondromatosis (IAGP)

Noonan syndrome (IAGP)

Noonan syndrome 1 (IAGP)

Noonan syndrome 3 (IAGP)

Noonan syndrome with multiple lentigines (IAGP)

Noonan syndrome with multiple lentigines 1 (IAGP)

RASopathy (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Juvenile myelomonocytic leukemia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PTPN11
Accession:	XM_011538613
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	71

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRNGAVTHIKIQNTGDYYDLYGGEKFGTLAELVQYY MEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGESN DGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETTD KVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNNS KPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLREL KLSKVGQALLQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCSAGIGRTGTFIVIDILID IIREKGVDCDIDVPKTIQMVRSQRSGMVQTEAQYRFIYMAVQHYIETLQRRIEEEQKSKRKGHEYTNIKYSLADQTSGDQ SPLPPCTPTPPCAEMREDSARVYENVGLMQQQKSFR*

Gene Symbol:	PTPN11
Accession:	NM_002834
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	72

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRRNGAVTHIKIQNTGDYYDLYGGEKFGTLAELVQY YMEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGES NDGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETT DKVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNN SKPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLRE LKLSKVGQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCSAGIGRTGTFIVIDILIDIIR EKGVDCDIDVPKTIQMVRSQRSGMVQTEAQYRFIYMAVQHYIETLQRRIEEEQKSKRKGHEYTNIKYSLADQTSGDQSPL PPCTPTPPCAEMREDSARVYENVGLMQQQKSFR*

Gene Symbol:	PTPN11
Accession:	NM_001330437
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	72

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRRNGAVTHIKIQNTGDYYDLYGGEKFGTLAELVQY YMEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGES NDGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETT DKVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNN SKPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLRE LKLSKVGQALLQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCSAGIGRTGTFIVIDILI DIIREKGVDCDIDVPKTIQMVRSQRSGMVQTEAQYRFIYMAVQHYIETLQRRIEEEQKSKRKGHEYTNIKYSLADQTSGD QSPLPPCTPTPPCAEMREDSARVYENVGLMQQQKSFR*

Gene Symbol:	PTPN11
Accession:	NM_080601
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	72

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRRNGAVTHIKIQNTGDYYDLYGGEKFGTLAELVQY YMEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGES NDGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETT DKVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNN SKPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLRE LKLSKVGQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCR*

Gene Symbol:	PTPN11
Accession:	NM_001374625
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	71

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRNGAVTHIKIQNTGDYYDLYGGEKFGTLAELVQYY MEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGESN DGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETTD KVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNNS KPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLREL KLSKVGQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCSAGIGRTGTFIVIDILIDIIRE KGVDCDIDVPKTIQMVRSQRSGMVQTEAQYRFIYMAVQHYIETLQRRIEEEQKSKRKGHEYTNIKYSLADQTSGDQSPLP PCTPTPPCAEMREDSARVYENVGLMQQQKSFR*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:11704759	PMID:11992261	PMID:12161469	PMID:12717436	PMID:12960218	PMID:14974085	PMID:15001945	PMID:15248152	PMID:15723289	PMID:15928039	PMID:15956085	PMID:16358218
PMID:16377799	PMID:16399795	PMID:17339163	PMID:17546245	PMID:18678287	PMID:19020799	PMID:21321969	PMID:21784453	PMID:24033266	PMID:24458522	PMID:24803665	PMID:25097206
PMID:25741868	PMID:26607044	PMID:26918529	PMID:28492532	PMID:30355600	PMID:30541462

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000014253	CLINVAR
	RCV000157006	CLINVAR
	RCV000157679	CLINVAR
	RCV000515213	CLINVAR
	RCV000587329	CLINVAR
	RCV000707460	CLINVAR
	RCV001813191	CLINVAR
	RCV002426502	CLINVAR
dbSNP (RS)	rs121918454	CLINVAR
MedGen	C0028326	CLINVAR
	C1860991	CLINVAR
	C3661900	CLINVAR
	C4551602	CLINVAR
	C5555857	CLINVAR
	C5681679	CLINVAR
	CN230736	CLINVAR
NCBI Gene	PTPN11	CLINVAR
OMIM	151100	CLINVAR
	156250	CLINVAR
	163950	CLINVAR
	176876	CLINVAR
	607785	CLINVAR
	609942	CLINVAR
OMIM Allele	176876.0002	CLINVAR
SNOMED CT	205481009	CLINVAR
	205824006	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:8599359 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8599359 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar