RGD:8599378 Rat Genome Database

Variant: RGD:8599378 - Homo sapiens

RGD ID:

8599378

RS ID:

rs121918470

ClinVar ID:

CV28383

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PTPN11

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	12	112,926,909
GRCh38	12	112,489,105

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.75374A>C NP_002825.3:p.Gln510Pro LRG_614:g.75374A>C NM_080601.1:c.*2472A>C More...	07/13/2020	missense\|missense variant	pathogenic	childhood\|neonatal/infancy	1 in 1,000-2,500	Cardiomyopathic lentiginosis; Female pseudo-Turner syndrome; KRAS gene related Noonan syndrome; Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, Deafness; LENTIGINOSIS, CARDIOMYOPATHIC; LEOPARD syndrome; LEOPARD syndrome 1; Multiple lentigines syndrome; none provided; Noonan spectrum disorder; Noonan syndrome; Noonan's syndrome; Pseudo-Turner syndrome; rasopathies; Turner phenotype with normal karyotype; Turner Syndrome, Male

Disease Annotations Click to see Annotation Detail View

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)

Variant Details

Variant Transcripts

Gene Symbol:	PTPN11
Accession:	NM_002834
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	510

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

Gene Symbol:	PTPN11
Accession:	NM_001330437
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	514

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

Gene Symbol:	PTPN11
Accession:	NM_001374625
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	509

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

Gene Symbol:	PTPN11
Accession:	XM_011538613
Location:	EXON
Amino Acid Prediction:	Q to P (nonsynonymous)
Amino Acid Position:	513

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

Gene Symbol:	PTPN11
Accession:	NM_080601
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:15520399	PMID:15690106	PMID:15889278	PMID:15948193	PMID:16358218	PMID:16638574	PMID:20308328	PMID:20578946	PMID:21677813	PMID:21910226	PMID:22058153	PMID:22488759
PMID:24033266	PMID:25708222	PMID:25741868	PMID:27193571	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000014272	CLINVAR
	RCV000033554	CLINVAR
	RCV000210036	CLINVAR
	RCV000520822	CLINVAR
	RCV000586289	CLINVAR
	RCV000824752	CLINVAR
	RCV001254107	CLINVAR
	RCV002286696	CLINVAR
	RCV003964800	CLINVAR
dbSNP (RS)	rs121918470	CLINVAR
MedGen	C0175704	CLINVAR
	C1860991	CLINVAR
	C3661900	CLINVAR
	C4551484	CLINVAR
	C4551602	CLINVAR
	C5555857	CLINVAR
NCBI Gene	PTPN11	CLINVAR
OMIM	151100	CLINVAR
	163950	CLINVAR
	176876	CLINVAR
	609942	CLINVAR
OMIM Allele	176876.0022	CLINVAR
SNOMED CT	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)

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Variant: RGD:8599378 - Homo sapiens

Imported Disease Annotations - ClinVar