RGD:150404882 Rat Genome Database

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Variant: RGD:150404882 -  Homo sapiens

RGD ID: 150404882
RS ID: rs2140676311
ClinVar ID: CV1189400
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPHN  PALS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 67,745,981
GRCh38 14 67,279,264
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.9:g.67279264C>T
NM_022474.4:c.94C>T
NP_071919.2:p.His32Tyr
NM_001256550.2:c.-9C>T
More... 		08/16/2021 5 prime utr variant uncertain significance Rett like syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PALS1
Accession:XM_024449691
Location:5UTRS;EXON

Gene Symbol:PALS1
Accession:XM_047431696
Location:5UTRS;EXON

Gene Symbol:PALS1
Accession:XM_047431695
Location:5UTRS;EXON

Gene Symbol:PALS1
Accession:XM_024449692
Location:5UTRS;EXON

Gene Symbol:PALS1
Accession:NM_001256550
Location:5UTRS;EXON

Gene Symbol:PALS1
Accession:XM_005268003
Location:5UTRS;EXON

Gene Symbol:PALS1
Accession:NM_022474
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTSHMNGHVTEESDSEVKNVDLASPEEHQKYREMAVDCPGDLGTRMMPIRRSAQLERIRQQQEDMRRRREEEGKKQELD
LNSSMRLKKLAQIPPKTGIDNPMFDTEEGIVLESPHYAVKILEIEDLFSSLKHIQHTLVDSQSQEDISLLLQLVQNKDFQ
NAFKIHNAITVHMNKASPPFPLISNAQDLAQEVQTVLKPVHHKEGQELTALLNTPHIQALLLAHDKVAEQEMQLEPITDE
RVYESIGQYGGETVKIVRIEKARDIPLGATVRNEMDSVIISRIVKGGAAEKSGLLHEGDEVLEINGIEIRGKDVNEVFDL
LSDMHGTLTFVLIPSQQIKPPPAKETVIHVKAHFDYDPSDDPYVPCRELGLSFQKGDILHVISQEDPNWWQAYREGDEDN
QPLAGLVPGKSFQQQREAMKQTIEEDKEPEKSGKLWCAKKNKKKRKKVLYNANKNDDYDNEEILTYEEMSLYHQPANRKR
PIILIGPQNCGQNELRQRLMNKEKDRFASAVPHTTRSRRDQEVAGRDYHFVSRQAFEADIAAGKFIEHGEFEKNLYGTSI
DSVRQVINSGKICLLSLRTQSLKTLRNSDLKPYIIFIAPPSQERLRALLAKEGKNPKPEELREIIEKTREMEQNNGHYFD
TAIVNSDLDKAYQELLRLINKLDTEPQWVPSTWLR*

Gene Symbol:PALS1
Accession:XM_011537086
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTSHMNGHVTEESDSEVKNVDLASPEEHQKYREMAVDCPGDLGTRMMPIRRSAQLERIRQQQEDMRRRREEEGKKQELD
LNSSMRLKKLAQIPPKTGIDNPMFDTEEGIVLESPHYAVKILEIEDLFSSLKHIQHTLVDSQSQEDISLLLQLVQNKDFQ
NAFKIHNAITVHMNKASPPFPLISNAQDLAQEVQTVLKPVHHKEGQELTALLNTPHIQALLLAHDKVAEQEMQLEPITDE
RVYESIGQYGGETVKIVRIEKARDIPLGATVRNEMDSVIISRIVKGGAAEKSGLLHEGDEVLEINGIEIRGKDVNEVFDL
LSDMHGTLTFVLIPSQQIKPPPAKETVIHVKAHFDYDPSDDPYVPCRELGLSFQKGDILHVISQEDPNWWQAYREGDEDN
QPLAGLVPGKSFQQQREAMKQTIEEDKEPEKSGKLWCAKKNKKKRKKVLYNANKNDDYDNEEILTYEEMSLYHQPANRKR
PIILIGPQNCGQNELRQRLMNKEKDRFASAVPHTTRSRRDQEVAGRDYHFVSRQAFEADIAAGKFIEHGEFEKNLYGTSI
DSVRQVINSGKICLLSLRTQSLKTLRNSDLKPYIIFIAPPSQERLRALLAKEGKNPKPEELREIIEKTREMEQNNGHYFD
TAIVNSDLDKAYQELLRLINKLDTEPQWVPSTWLR*

Gene Symbol:PALS1
Accession:XM_047431693
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTSHMNGHVTEESDSEVKNVDLASPEEHQKYREMAVDCPGDLGTRMMPIRRSAQLERIRQQQEDMRRRREEEGKKQELD
LNSSMRLKKLAQIPPKTGIDNPMFDTEEGIVLESPHYAVKILEIEDLFSSLKHIQHTLVDSQSQEDISLLLQLVQNKDFQ
NAFKIHNAITVHMNKASPPFPLISNAQDLAQEVQTVLKPVHHKEGQELTALLNTPHIQALLLAHDKVAEQEMQLEPITDE
RVYESIGQYGGETVKIVRIEKARDIPLGATVRNEMDSVIISRIVKGGAAEKSGLLHEGDEVLEINGIEIRGKDVNEVFDL
LSDMHGTLTFVLIPSQQIKPPPAKETVIHVKAHFDYDPSDDPYVPCRELGLSFQKGDILHVISQEDPNWWQAYREGDEDN
QPLAGLVPGKSFQQQREAMKQTIEEDKEPEKSGKLWCAKKNKKKRKKVLYNANKNDDYDNEEILTYEEMSLYHQPANRKR
PIILIGPQNCGQNELRQRLMNKEKDRFASAVPHTTRSRRDQEVAGRDYHFVSRQAFEADIAAGKFIEHGEFEKNLYGTSI
DSVRQVINSGKICLLSLRTQSLKTLRNSDLKPYIIFIAPPSQERLRALLAKEGKNPKPEELREIIEKTREMEQNNGHYFD
TAIVNSDLDKAYQELLRLINKLDTEPQWVPSTWLR*

Gene Symbol:PALS1
Accession:XM_047431692
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTSHMNGHVTEESDSEVKNVDLASPEEHQKYREMAVDCPGDLGTRMMPIRRSAQLERIRQQQEDMRRRREEEGKKQELD
LNSSMRLKKLAQIPPKTGIDNPMFDTEEGIVLESPHYAVKILEIEDLFSSLKHIQHTLVDSQSQEDISLLLQLVQNKDFQ
NAFKIHNAITVHMNKASPPFPLISNAQDLAQEVQTVLKPVHHKEGQELTALLNTPHIQALLLAHDKVAEQEMQLEPITDE
RVYESIGQYGGETVKIVRIEKARDIPLGATVRNEMDSVIISRIVKGGAAEKSGLLHEGDEVLEINGIEIRGKDVNEVFDL
LSDMHGTLTFVLIPSQQIKPPPAKETVIHVKAHFDYDPSDDPYVPCRELGLSFQKGDILHVISQEDPNWWQAYREGDEDN
QPLAGLVPGKSFQQQREAMKQTIEEDKEPEKSGKLWCAKKNKKKRKKVLYNANKNDDYDNEEILTYEEMSLYHQPANRKR
PIILIGPQNCGQNELRQRLMNKEKDRFASAVPHTTRSRRDQEVAGRDYHFVSRQAFEADIAAGKFIEHGEFEKNLYGTSI
DSVRQVINSGKICLLSLRTQSLKTLRNSDLKPYIIFIAPPSQERLRALLAKEGKNPKPEELREIIEKTREMEQNNGHYFD
TAIVNSDLDKAYQELLRLINKLDTEPQWVPSTWLR*

Gene Symbol:PALS1
Accession:XM_047431691
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTSHMNGHVTEESDSEVKNVDLASPEEHQKYREMAVDCPGDLGTRMMPIRRSAQLERIRQQQEDMRRRREEEGKKQELD
LNSSMRLKKLAQIPPKTGIDNPMFDTEEGIVLESPHYAVKILEIEDLFSSLKHIQHTLVDSQSQEDISLLLQLVQNKDFQ
NAFKIHNAITVHMNKASPPFPLISNAQDLAQEVQTVLKPVHHKEGQELTALLNTPHIQALLLAHDKVAEQEMQLEPITDE
RVYESIGQYGGETVKIVRIEKARDIPLGATVRNEMDSVIISRIVKGGAAEKSGLLHEGDEVLEINGIEIRGKDVNEVFDL
LSDMHGTLTFVLIPSQQIKPPPAKETVIHVKAHFDYDPSDDPYVPCRELGLSFQKGDILHVISQEDPNWWQAYREGDEDN
QPLAGLVPGKSFQQQREAMKQTIEEDKEPEKSGKLWCAKKNKKKRKKVLYNANKNDDYDNEEILTYEEMSLYHQPANRKR
PIILIGPQNCGQNELRQRLMNKEKDRFASAVPHTTRSRRDQEVAGRDYHFVSRQAFEADIAAGKFIEHGEFEKNLYGTSI
DSVRQVINSGKICLLSLRTQSLKTLRNSDLKPYIIFIAPPSQERLRALLAKEGKNPKPEELREIIEKTREMEQNNGHYFD
TAIVNSDLDKAYQELLRLINKLDTEPQWVPSTWLR*

Gene Symbol:PALS1
Accession:XM_047431690
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTSHMNGHVTEESDSEVKNVDLASPEEHQKYREMAVDCPGDLGTRMMPIRRSAQLERIRQQQEDMRRRREEEGKKQELD
LNSSMRLKKLAQIPPKTGIDNPMFDTEEGIVLESPHYAVKILEIEDLFSSLKHIQHTLVDSQSQEDISLLLQLVQNKDFQ
NAFKIHNAITVHMNKASPPFPLISNAQDLAQEVQTVLKPVHHKEGQELTALLNTPHIQALLLAHDKVAEQEMQLEPITDE
RVYESIGQYGGETVKIVRIEKARDIPLGATVRNEMDSVIISRIVKGGAAEKSGLLHEGDEVLEINGIEIRGKDVNEVFDL
LSDMHGTLTFVLIPSQQIKPPPAKETVIHVKAHFDYDPSDDPYVPCRELGLSFQKGDILHVISQEDPNWWQAYREGDEDN
QPLAGLVPGKSFQQQREAMKQTIEEDKEPEKSGKLWCAKKNKKKRKKVLYNANKNDDYDNEEILTYEEMSLYHQPANRKR
PIILIGPQNCGQNELRQRLMNKEKDRFASAVPHTTRSRRDQEVAGRDYHFVSRQAFEADIAAGKFIEHGEFEKNLYGTSI
DSVRQVINSGKICLLSLRTQSLKTLRNSDLKPYIIFIAPPSQERLRALLAKEGKNPKPEELREIIEKTREMEQNNGHYFD
TAIVNSDLDKAYQELLRLINKLDTEPQWVPSTWLR*

Gene Symbol:PALS1
Accession:XM_011537087
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTSHMNGHVTEESDSEVKNVDLASPEEHQKYREMAVDCPGDLGTRMMPIRRSAQLERIRQQQEDMRRRREEEGKKQELD
LNSSMRLKKLAQIPPKTGIDNPMFDTEEGIVLESPHYAVKILEIEDLFSSLKHIQHTLVDSQSQEDISLLLQLVQNKDFQ
NAFKIHNAITVHMNKASPPFPLISNAQDLAQEVQTVLKPVHHKEGQELTALLNTPHIQALLLAHDKVAEQEMQLEPITDE
RVYESIGQYGGETVKIVRIEKARDIPLGATVRNEMDSVIISRIVKGGAAEKSGLLHEGDEVLEINGIEIRGKDVNEVFDL
LSDMHGTLTFVLIPSQQIKPPPAKETVIHVKAHFDYDPSDDPYVPCRELGLSFQKGDILHVISQEDPNWWQAYREGDEDN
QPLAGLVPGKSFQQQREAMKQTIEEDKEPEKSGKLWCAKKNKKKRKKVLYNANKNDDYDNEEILTYEEMSLYHQPANRKR
PIILIGPQNCGQNELRQRLMNKEKDRFASAVPHTTRSRRDQEVAGRDYHFVSRQAFEADIAAGKFIEHGEFEKNLYGTSI
DSVRQVINSGKICLLSLRTQSLKTLRNSDLKPYIIFIAPPSQERLRALLAKEGKNPKPEELREIIEKTREMEQNNGHYFD
TAIVNSDLDKAYQELLRLINKLDTEPQWVPSTWLR*

Gene Symbol:GPHN
Accession:XM_011536343
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020918
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020914
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001024218
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377517
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430880
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536345
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377516
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430876
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377514
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377515
Location:INTRON

Gene Symbol:GPHN
Accession:NM_020806
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377518
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536340
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536342
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020917
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536344
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020913
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430878
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430877
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430879
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377519
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430875
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:33073849  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001564028 CLINVAR
dbSNP (RS) rs2140676311 CLINVAR
MedGen C2748910 CLINVAR
NCBI Gene GPHN CLINVAR
  PALS1 CLINVAR
OMIM 603930 CLINVAR
  606958 CLINVAR