RGD:13215022 Rat Genome Database

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Variant: RGD:13215022 -  Homo sapiens

RGD ID: 13215022
RS ID: rs532529560
ClinVar ID: CV429364
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTPN11  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 112,920,006
GRCh38 12 112,482,202
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_614:g.68471A>G
NG_007459.1:g.68471A>G
NC_000012.12:g.112482202A>G
NC_000012.11:g.112920006A>G
More...
04/07/2018 synonymous variant benign|uncertain significance AllHighlyPenetrant; Female pseudo-Turner syndrome; LENTIGINOSIS, CARDIOMYOPATHIC; LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC; MULTIPLE LENTIGINES SYNDROME; Noonan spectrum disorder; rasopathies; Turner phenotype with normal karyotype; Turner Syndrome, Male
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PTPN11
Accession:NM_002834
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 407
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRRNGAVTHIKIQNTGDYYDLYGGEKFATLAELVQY
YMEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGES
NDGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETT
DKVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNN
SKPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLRE
LKLSKVGQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCSAGIGRTGTFIVIDILIDIIR
EKGVDCDIDVPKTIQMVRSQRSGMVQTEAQYRFIYMAVQHYIETLQRRIEEEQKSKRKGHEYTNIKYSLADQTSGDQSPL
PPCTPTPPCAEMREDSARVYENVGLMQQQKSFR*

Gene Symbol:PTPN11
Accession:NM_080601
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 407
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRRNGAVTHIKIQNTGDYYDLYGGEKFATLAELVQY
YMEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGES
NDGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETT
DKVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNN
SKPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLRE
LKLSKVGQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCR*

Gene Symbol:PTPN11
Accession:XM_011538613
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRNGAVTHIKIQNTGDYYDLYGGEKFATLAELVQYY
MEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGESN
DGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETTD
KVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNNS
KPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLREL
KLSKVGQALLQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCSAGIGRTGTFIVIDILID
IIREKGVDCDIDVPKTIQMVRSQRSGMVQTEAQYRFIYMAVQHYIETLQRRIEEEQKSKRKGHEYTNIKYSLADQTSGDQ
SPLPPCTPTPPCAEMREDSARVYENVGLMQQQKSFR*

Gene Symbol:PTPN11
Accession:NM_001330437
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 407
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRRNGAVTHIKIQNTGDYYDLYGGEKFATLAELVQY
YMEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGES
NDGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETT
DKVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNN
SKPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLRE
LKLSKVGQALLQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCSAGIGRTGTFIVIDILI
DIIREKGVDCDIDVPKTIQMVRSQRSGMVQTEAQYRFIYMAVQHYIETLQRRIEEEQKSKRKGHEYTNIKYSLADQTSGD
QSPLPPCTPTPPCAEMREDSARVYENVGLMQQQKSFR*

Gene Symbol:PTPN11
Accession:NM_001374625
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRNGAVTHIKIQNTGDYYDLYGGEKFATLAELVQYY
MEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGESN
DGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETTD
KVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNNS
KPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLREL
KLSKVGQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCSAGIGRTGTFIVIDILIDIIRE
KGVDCDIDVPKTIQMVRSQRSGMVQTEAQYRFIYMAVQHYIETLQRRIEEEQKSKRKGHEYTNIKYSLADQTSGDQSPLP
PCTPTPPCAEMREDSARVYENVGLMQQQKSFR*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000501992 CLINVAR
  RCV000522823 CLINVAR
  RCV001112241 CLINVAR
  RCV001112242 CLINVAR
  RCV001112243 CLINVAR
  RCV002367691 CLINVAR
  RCV003316649 CLINVAR
dbSNP (RS) rs532529560 CLINVAR
MedGen C0349639 CLINVAR
  C0410530 CLINVAR
  C4551484 CLINVAR
  C4551602 CLINVAR
  C5555857 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene PTPN11 CLINVAR
OMIM 151100 CLINVAR
  156250 CLINVAR
  163950 CLINVAR
  176876 CLINVAR
  607785 CLINVAR
SNOMED CT 205481009 CLINVAR