RGD:8604532 Rat Genome Database

Variant: RGD:8604532 - Homo sapiens

RGD ID:

8604532

RS ID:

rs397507549

ClinVar ID:

CV49036

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PTPN11

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	12	112,926,908
GRCh38	12	112,489,104

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.75373C>G NC_000012.12:g.112489104C>G NC_000012.11:g.112926908C>G NP_002825.3:p.Gln510Glu More...	03/23/2023	missense\|missense variant	pathogenic\|not provided	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; 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:	XM_011538613
Location:	EXON
Amino Acid Prediction:	Q to E (nonsynonymous)
Amino Acid Position:	513

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

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

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

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

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

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

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

Gene Symbol:	PTPN11
Accession:	NM_080601
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:2057894	PMID:15520399	PMID:15690106	PMID:15889278	PMID:16358218	PMID:16733669	PMID:18241070	PMID:18505544	PMID:19077116	PMID:19273734	PMID:19582499	PMID:20301557
PMID:20954246	PMID:21677813	PMID:21803945	PMID:21910226	PMID:22058153	PMID:22190897	PMID:22781091	PMID:23673659	PMID:24033266	PMID:24935154	PMID:25326635	PMID:25359717
PMID:25708222	PMID:25724491	PMID:25741868	PMID:26742426	PMID:28492532	PMID:30732632

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000033553	CLINVAR
	RCV000055888	CLINVAR
	RCV000210041	CLINVAR
	RCV000589512	CLINVAR
	RCV000619738	CLINVAR
	RCV000679882	CLINVAR
	RCV000824751	CLINVAR
	RCV002251945	CLINVAR
	RCV003335060	CLINVAR
dbSNP (RS)	rs397507549	CLINVAR
MedGen	C0175704	CLINVAR
	C1860991	CLINVAR
	C3661900	CLINVAR
	C4551484	CLINVAR
	C4551602	CLINVAR
	C5555857	CLINVAR
	CN230736	CLINVAR
NCBI Gene	PTPN11	CLINVAR
OMIM	151100	CLINVAR
	163950	CLINVAR
	176876	CLINVAR
	609942	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:8604532 - Homo sapiens

Imported Disease Annotations - ClinVar