RGD:8599368 Rat Genome Database

Variant: RGD:8599368 - Homo sapiens

RGD ID:

8599368

RS ID:

rs121918462

ClinVar ID:

CV28373

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PTPN11

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	12	112,888,202
GRCh38	12	112,450,398

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.36667C>T NC_000012.12:g.112450398C>T NC_000012.11:g.112888202C>T NP_002825.3:p.Thr73Ile More...	09/17/2020	missense\|missense variant	pathogenic\|conflicting interpretations of pathogenicity	neonatal/infancy\|adolescence / young adulthood\|childhood	1 in 1,000-2,500\|1-9 / 1 000 000	Female pseudo-Turner syndrome; Juvenile myelomonocytic leukemia; 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 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:	NM_001374625
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	72

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

Gene Symbol:	PTPN11
Accession:	XM_011538613
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	72

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

Gene Symbol:	PTPN11
Accession:	NM_001330437
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	73

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

Gene Symbol:	PTPN11
Accession:	NM_080601
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	73

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

Gene Symbol:	PTPN11
Accession:	NM_002834
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	73

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:11992261	PMID:12161469	PMID:12717436	PMID:14644997	PMID:14676626	PMID:15009076	PMID:15240615	PMID:15385933	PMID:15539800	PMID:15723289	PMID:15725481	PMID:15834506
PMID:15842656	PMID:15928039	PMID:15948193	PMID:15987685	PMID:16115145	PMID:16358218	PMID:16377799	PMID:17020470	PMID:17222357	PMID:17227708	PMID:17339163	PMID:17546245
PMID:17910045	PMID:17972951	PMID:18331608	PMID:18454468	PMID:19063751	PMID:20237506	PMID:20383758	PMID:23446178	PMID:23832011	PMID:24033266	PMID:24718990	PMID:25097206
PMID:25741868	PMID:26286251	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000014262	CLINVAR
	RCV000033475	CLINVAR
	RCV000156985	CLINVAR
	RCV000212891	CLINVAR
	RCV000515312	CLINVAR
	RCV001813199	CLINVAR
	RCV002415414	CLINVAR
	RCV003147287	CLINVAR
	RCV003147288	CLINVAR
dbSNP (RS)	rs121918462	CLINVAR
MedGen	C0028326	CLINVAR
	C0410530	CLINVAR
	C3661900	CLINVAR
	C4551484	CLINVAR
	C4551602	CLINVAR
	C5555857	CLINVAR
	C5681679	CLINVAR
	CN230736	CLINVAR
NCBI Gene	PTPN11	CLINVAR
OMIM	151100	CLINVAR
	156250	CLINVAR
	163950	CLINVAR
	176876	CLINVAR
	607785	CLINVAR
OMIM Allele	176876.0011	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:8599368 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8599368 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar