RGD:156075447 Rat Genome Database

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Variant: RGD:156075447 -  Homo sapiens

RGD ID: 156075447
ClinVar ID: CV2281520
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPM1E  TRIM37  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 57,058,102
GRCh38 17 58,980,741
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014906.5:c.1978C>G
NG_009298.2:g.131139G>C
NG_009298.1:g.131165G>C
NC_000017.11:g.58980741C>G
More... 		06/30/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PPM1E
Accession:NM_014906
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 660
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGCIPEEKTYRRFLELFLGEFRGPCGGGEPEPEPEPEPEPEPESEPEPEPELVEAEAAEASVEEPGEEAATVAATEEGD
QEQDPEPEEEAAVEGEEEEEGAATAAAAPGHSAVPPPPPQLPPLPPLPRPLSERITREEVEGESLDLCLQQLYKYNCPSF
LAAALARATSDEVLQSDLSAHYIPKETDGTEGTVEIETVKLARSVFSKLHEICCSWVKDFPLRRRPQLYYETSIHAIKNM
RRKMEDKHVCIPDFNMLFNLEDQEEQAYFAVFDGHGGVDAAIYASIHLHVNLVRQEMFPHDPAEALCRAFRVTDERFVQK
AARESLRCGTTGVVTFIRGNMLHVAWVGDSQVMLVRKGQAVELMKPHKPDREDEKQRIEALGGCVVWFGAWRVNGSLSVS
RAIGDAEHKPYICGDADSASTVLDGTEDYLILACDGFYDTVNPDEAVKVVSDHLKENNGDSSMVAHKLVASARDAGSSDN
ITVIVVFLRDMNKAVNVSEESDWTENSFQGGQEDGGDDKENHGECKRPWPQHQCSAPADLGYDGRVDSFTDRTSLSPGSQ
INVLEDPGYLDLTQIEASKPHSAQFLLPVEMFGPGAPKKANLINELMMEKKSVQSSLPEWSGAGEFPTAFNLGSTGEQIY
RMQSLSPVCSGLENEQFKSAGNRVSRLSHLRHHYSKKWHRFRFNPKFYSFLSAQEPSHKIGTSLSSLTGSGKRNRIRSSL
PWRQNSWKGYSENMRKLRKTHDIPCPDLPWSYKIE*

Gene Symbol:PPM1E
Accession:XM_024450657
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 421
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRKMEDKHVCIPDFNMLFNLEDQEEQAYFAVFDGHGGVDAAIYASIHLHVNLVRQEMFPHDPAEALCRAFRVTDERFVQ
KAARESLRCGTTGVVTFIRGNMLHVAWVGDSQVMLVRKGQAVELMKPHKPDREDEKQRIEALGGCVVWFGAWRVNGSLSV
SRAIGDAEHKPYICGDADSASTVLDGTEDYLILACDGFYDTVNPDEAVKVVSDHLKENNGDSSMVAHKLVASARDAGSSD
NITVIVVFLRDMNKAVNVSEESDWTENSFQGGQEDGGDDKENHGECKRPWPQHQCSAPADLGYDGRVDSFTDRTSLSPGS
QINVLEDPGYLDLTQIEASKPHSAQFLLPVEMFGPGAPKKANLINELMMEKKSVQSSLPEWSGAGEFPTAFNLGSTGEQI
YRMQSLSPVCSGLENEQFKSAGNRVSRLSHLRHHYSKKWHRFRFNPKFYSFLSAQEPSHKIGTSLSSLTGSGKRNRIRSS
LPWRQNSWKGYSENMRKLRKTHDIPCPDLPWSYKIE*

Gene Symbol:PPM1E
Accession:XM_047435630
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 423
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSFRVIFLHIISQRKRMAQKGLWDQEEQAYFAVFDGHGGVDAAIYASIHLHVNLVRQEMFPHDPAEALCRAFRVTDERF
VQKAARESLRCGTTGVVTFIRGNMLHVAWVGDSQVMLVRKGQAVELMKPHKPDREDEKQRIEALGGCVVWFGAWRVNGSL
SVSRAIGDAEHKPYICGDADSASTVLDGTEDYLILACDGFYDTVNPDEAVKVVSDHLKENNGDSSMVAHKLVASARDAGS
SDNITVIVVFLRDMNKAVNVSEESDWTENSFQGGQEDGGDDKENHGECKRPWPQHQCSAPADLGYDGRVDSFTDRTSLSP
GSQINVLEDPGYLDLTQIEASKPHSAQFLLPVEMFGPGAPKKANLINELMMEKKSVQSSLPEWSGAGEFPTAFNLGSTGE
QIYRMQSLSPVCSGLENEQFKSAGNRVSRLSHLRHHYSKKWHRFRFNPKFYSFLSAQEPSHKIGTSLSSLTGSGKRNRIR
SSLPWRQNSWKGYSENMRKLRKTHDIPCPDLPWSYKIE*

Gene Symbol:PPM1E
Accession:NR_048561
Location:EXON;NON-CODING

Gene Symbol:TRIM37
Accession:NM_001005207
Location:INTRON

Gene Symbol:TRIM37
Accession:NM_015294
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_005257385
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_011524833
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_011524836
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_011524832
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_011524831
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_011524834
Location:INTRON

Gene Symbol:TRIM37
Accession:NM_001320989
Location:INTRON

Gene Symbol:TRIM37
Accession:NM_001320987
Location:INTRON

Gene Symbol:TRIM37
Accession:NM_001320988
Location:INTRON

Gene Symbol:TRIM37
Accession:NM_001320990
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_017024663
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_017024662
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_017024667
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_017024665
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_017024673
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_017024670
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_017024669
Location:INTRON

Gene Symbol:TRIM37
Accession:NM_001353085
Location:INTRON

Gene Symbol:TRIM37
Accession:NM_001353082
Location:INTRON

Gene Symbol:TRIM37
Accession:NM_001353086
Location:INTRON

Gene Symbol:TRIM37
Accession:NM_001353084
Location:INTRON

Gene Symbol:TRIM37
Accession:NM_001353083
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436110
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436107
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436111
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436122
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436121
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436114
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436113
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436117
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436108
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436123
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436116
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436115
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436106
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436109
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436112
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436118
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436125
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436124
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436126
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436120
Location:INTRON

Gene Symbol:TRIM37
Accession:XM_047436119
Location:INTRON

Gene Symbol:TRIM37
Accession:NR_148347
Location:INTRON;NON-CODING

Gene Symbol:TRIM37
Accession:NR_148346
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004153832 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PPM1E CLINVAR
  TRIM37 CLINVAR
OMIM 605073 CLINVAR
  619308 CLINVAR