RGD:12840209 Rat Genome Database

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Variant: RGD:12840209 -  Homo sapiens

RGD ID: 12840209
RS ID: rs121918454
ClinVar ID: CV363390
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTPN11  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 112,888,199
GRCh38 12 112,450,395
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_614:g.36664C>A
NG_007459.1:g.36664C>A
NC_000012.12:g.112450395C>A
NC_000012.11:g.112888199C>A
More... 		05/31/2016 missense variant likely pathogenic adult|all ages|childhood 1-5 / 10 000|1-9 / 100 000 Acute granulocytic leukemia; Acute myelogenous leukemia; Acute myeloid leukemia, adult; Acute non-lymphocytic leukemia; AML adult; Brain neoplasm; Brain Neoplasms; Brain tumour; Chronic lymphatic leukemia; Leukemia, acute myelogenous, somatic; Leukemia, acute myeloid, somatic; Leukemia, B-cell, chronic
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PTPN11
Accession:NM_080601
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRRNGAVTHIKIQNTGDYYDLYGGEKFDTLAELVQY
YMEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGES
NDGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETT
DKVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNN
SKPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLRE
LKLSKVGQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCR*

Gene Symbol:PTPN11
Accession:NM_001374625
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRNGAVTHIKIQNTGDYYDLYGGEKFDTLAELVQYY
MEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGESN
DGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETTD
KVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNNS
KPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLREL
KLSKVGQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCSAGIGRTGTFIVIDILIDIIRE
KGVDCDIDVPKTIQMVRSQRSGMVQTEAQYRFIYMAVQHYIETLQRRIEEEQKSKRKGHEYTNIKYSLADQTSGDQSPLP
PCTPTPPCAEMREDSARVYENVGLMQQQKSFR*

Gene Symbol:PTPN11
Accession:NM_002834
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRRNGAVTHIKIQNTGDYYDLYGGEKFDTLAELVQY
YMEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGES
NDGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETT
DKVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNN
SKPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLRE
LKLSKVGQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCSAGIGRTGTFIVIDILIDIIR
EKGVDCDIDVPKTIQMVRSQRSGMVQTEAQYRFIYMAVQHYIETLQRRIEEEQKSKRKGHEYTNIKYSLADQTSGDQSPL
PPCTPTPPCAEMREDSARVYENVGLMQQQKSFR*

Gene Symbol:PTPN11
Accession:XM_011538613
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRNGAVTHIKIQNTGDYYDLYGGEKFDTLAELVQYY
MEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGESN
DGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETTD
KVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNNS
KPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLREL
KLSKVGQALLQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCSAGIGRTGTFIVIDILID
IIREKGVDCDIDVPKTIQMVRSQRSGMVQTEAQYRFIYMAVQHYIETLQRRIEEEQKSKRKGHEYTNIKYSLADQTSGDQ
SPLPPCTPTPPCAEMREDSARVYENVGLMQQQKSFR*

Gene Symbol:PTPN11
Accession:NM_001330437
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRRNGAVTHIKIQNTGDYYDLYGGEKFDTLAELVQY
YMEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGKEAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGES
NDGKSKVTHVMIRCQELKYDVGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETT
DKVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEPVSDYINANIIMPEFETKCNN
SKPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEVERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLRE
LKLSKVGQALLQGNTERTVWQYHFRTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCSAGIGRTGTFIVIDILI
DIIREKGVDCDIDVPKTIQMVRSQRSGMVQTEAQYRFIYMAVQHYIETLQRRIEEEQKSKRKGHEYTNIKYSLADQTSGD
QSPLPPCTPTPPCAEMREDSARVYENVGLMQQQKSFR*
Variant Samples
Additional References at PubMed
PMID:26619011  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000420417 CLINVAR
  RCV000430256 CLINVAR
  RCV000440942 CLINVAR
  RCV000441142 CLINVAR
dbSNP (RS) rs121918454 CLINVAR
MedGen C0006118 CLINVAR
  C0023434 CLINVAR
  C0023467 CLINVAR
  C0027819 CLINVAR
NCBI Gene PTPN11 CLINVAR
OMIM 151400 CLINVAR
  176876 CLINVAR
  601626 CLINVAR
SNOMED CT 126952004 CLINVAR
  17788007 CLINVAR
  277473004 CLINVAR