RGD:155934068 Rat Genome Database

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Pathways
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Variant: RGD:155934068 -  Homo sapiens

RGD ID: 155934068
ClinVar ID: CV2372388
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCDHA1  PCDHA2  PCDHA3  PCDHA4  PCDHA5  PCDHA6  PCDHA7  PCDHA8  PCDHA9  PCDHA@  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 140,228,205
GRCh38 5 140,848,620
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014005.4:c.125G>A
NM_031857.2:c.125G>A
NM_031849.3:c.1602+18927G>A
NM_031411.3:c.1602+60728G>A
More... 		01/10/2022 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PCDHA9
Accession:NM_031857
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLYSSRGDPEGQPLLLSLLILAMWVVGSGQLHYSVPEEAEHDTFVGRIAQDLGLELAELVPRLFQLDSKGRGDLLEVNLQ
NGILFVNSRIDREELCGRSAECSIHLEVIVDRPLQVFHVDVEVKDINDNPPVFPATQKNLFIAESRPLDSRFPLEGASDA
DIGENALLTYRLSPNEYFFLDVPTSNQQVKPLGLVLRKLLDREETPELHLLLTATDGGKPELTGTVQLLITVLDNNDNAP
VFDRTLYTVKLPENVSIGTLVIHPNASDLDEGLNGDIIYSFSSDVSPDIKSKFHMDPLSGAITVIGHMDFEESRAHKIPV
EAVDKGFPPLAGHCTLLVEVVDVNDNAPQLTIKTLSVPVKEDAQLGTVIALISVIDLDADANGQVTCSLTPHVPFKLVST
YKNYYSLVLDRALDRESVSAYELVVTARDGGSPSLWATARVSVEVADVNDNAPAFAQSEYTVFVKENNPPGCHIFTVSAR
DADAQENALVSYSLVERRLGERSLSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDEND
NAPALLTPRMRGTDGAVSEMVLRSVGAGVVVGKVRAVDADSGYNAWLSYELQPETASASIPFRVGLYTGEISTTRALDET
DAPRQRLLVLVKDHGEPALTATATVLVSLVESGQAPKSSSRASVGATGPEVTLVDVNVYLIIAICAVSSLLVLTLLLYTV
LRCSAMPTEGECAPGKPTLVCSSAVGSWSYSQQRRQRVCSGEGKQKTDLMAFSPGLSPCAGSTERTGEPSASSDSTGKPR
QPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSG
PGELPDKFIIPGSPAIISIRQEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ*

Gene Symbol:PCDHA9
Accession:NM_014005
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLYSSRGDPEGQPLLLSLLILAMWVVGSGQLHYSVPEEAEHDTFVGRIAQDLGLELAELVPRLFQLDSKGRGDLLEVNLQ
NGILFVNSRIDREELCGRSAECSIHLEVIVDRPLQVFHVDVEVKDINDNPPVFPATQKNLFIAESRPLDSRFPLEGASDA
DIGENALLTYRLSPNEYFFLDVPTSNQQVKPLGLVLRKLLDREETPELHLLLTATDGGKPELTGTVQLLITVLDNNDNAP
VFDRTLYTVKLPENVSIGTLVIHPNASDLDEGLNGDIIYSFSSDVSPDIKSKFHMDPLSGAITVIGHMDFEESRAHKIPV
EAVDKGFPPLAGHCTLLVEVVDVNDNAPQLTIKTLSVPVKEDAQLGTVIALISVIDLDADANGQVTCSLTPHVPFKLVST
YKNYYSLVLDRALDRESVSAYELVVTARDGGSPSLWATARVSVEVADVNDNAPAFAQSEYTVFVKENNPPGCHIFTVSAR
DADAQENALVSYSLVERRLGERSLSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDEND
NAPALLTPRMRGTDGAVSEMVLRSVGAGVVVGKVRAVDADSGYNAWLSYELQPETASASIPFRVGLYTGEISTTRALDET
DAPRQRLLVLVKDHGEPALTATATVLVSLVESGQAPKSSSRASVGATGPEVTLVDVNVYLIIAICAVSSLLVLTLLLYTV
LRCSAMPTEGECAPGKPTLVCSSAVGSWSYSQQRRQRVCSGEGKQKTDLMAFSPGLSPCAGSTERTGEPSASSDSTGKVG
FSSILFIYIIFFLERYYRLLPGAVQIVLFIFLEIQQIFFLIK*

Gene Symbol:PCDHA1
Accession:NM_018900
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_031411
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_031410
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_018905
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_031495
Location:INTRON

Gene Symbol:PCDHA8
Accession:NM_018911
Location:INTRON

Gene Symbol:PCDHA8
Accession:NM_031856
Location:INTRON

Gene Symbol:PCDHA5
Accession:NM_018908
Location:INTRON

Gene Symbol:PCDHA5
Accession:NM_031501
Location:INTRON

Gene Symbol:PCDHA6
Accession:NM_018909
Location:INTRON

Gene Symbol:PCDHA6
Accession:NM_031849
Location:INTRON

Gene Symbol:PCDHA6
Accession:NM_031848
Location:INTRON

Gene Symbol:PCDHA7
Accession:NM_018910
Location:INTRON

Gene Symbol:PCDHA7
Accession:NM_031852
Location:INTRON

Gene Symbol:PCDHA3
Accession:NM_018906
Location:INTRON

Gene Symbol:PCDHA3
Accession:NM_031497
Location:INTRON

Gene Symbol:PCDHA4
Accession:NM_018907
Location:INTRON

Gene Symbol:PCDHA4
Accession:NM_031500
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_031496
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002684592 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PCDHA1 CLINVAR
  PCDHA2 CLINVAR
  PCDHA3 CLINVAR
  PCDHA4 CLINVAR
  PCDHA5 CLINVAR
  PCDHA6 CLINVAR
  PCDHA7 CLINVAR
  PCDHA8 CLINVAR
  PCDHA9 CLINVAR
  PCDHA@ CLINVAR
OMIM 604966 CLINVAR
  606307 CLINVAR
  606308 CLINVAR
  606309 CLINVAR
  606310 CLINVAR
  606311 CLINVAR
  606312 CLINVAR
  606313 CLINVAR
  606314 CLINVAR
  606315 CLINVAR