RGD:401917873 Rat Genome Database

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Variant: RGD:401917873 -  Homo sapiens

RGD ID: 401917873
ClinVar ID: CV2825260
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCDHA1  PCDHA2  PCDHA3  PCDHA4  PCDHA5  PCDHA6  PCDHA7  PCDHA8  PCDHA@  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 140,221,686
GRCh38 5 140,842,101
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_031849.3:c.1602+12408A>G
NM_031411.3:c.1602+54209A>G
NM_018908.3:c.2352+17974A>G
NM_018910.3:c.2355+5363A>G
More... 		03/01/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PCDHA8
Accession:NM_018911
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYHWRGELGSWRLLLLLLLLAAWKVGSGQLHYSVPEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHRDLLEVSLQ
NGILFVNSRIDREELCGRSAECSIHLEVIVDRPLQVFHVDVEVKDVNDNPPVFRVKDQKLFVSESRMPDSRFPLEGASDA
DVGANSVLTYRLSSHDYFMLDVNSKNDENKLVELVLRKSLDREDAPAHHLFLTATDGGKPELTGTVQLLVTVLDVNDNAP
TFEQSEYEVRIFENADNGTTVIKLNASDPDEGANGAISYSFNSLVETMVIDHFSIDRNTGEIVIRGNLDFEQENLYKILI
DATDKGHPPMAGHCTVLVRILDKNDNVPEIALTSLSLPVREDAQFGTVIALISVNDLDSGANGQVTCSLMPHVPFKLVST
FKNYYSLVLDSALDRERVSAYELVVTARDGGSPSLWATASLSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAR
DADAQENALVSYSLVERRVGERSLSSYISVHTESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDEND
NAPALLEPRVGGTGGAASKLVPRSVGAGHVVAKVRAVDADSGYNAWLSYELQPAASSPRIPFRVGLYTGEISTTRVLDEA
DSPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRQSAGVLGPEAALVDVNVYLIIAICAVSSLLVLTLLLYTA
LRCSALPTEGGCRAGKPTLVCSSAVGSWSYSQQQPQRVCSGEGPPKTDLMAFSPCLPPDLGSVDVGEEQDLNVDHGLKPR
QPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSG
PGELPDKFIIPGSPAIISIRQEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ*

Gene Symbol:PCDHA8
Accession:NM_031856
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYHWRGELGSWRLLLLLLLLAAWKVGSGQLHYSVPEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHRDLLEVSLQ
NGILFVNSRIDREELCGRSAECSIHLEVIVDRPLQVFHVDVEVKDVNDNPPVFRVKDQKLFVSESRMPDSRFPLEGASDA
DVGANSVLTYRLSSHDYFMLDVNSKNDENKLVELVLRKSLDREDAPAHHLFLTATDGGKPELTGTVQLLVTVLDVNDNAP
TFEQSEYEVRIFENADNGTTVIKLNASDPDEGANGAISYSFNSLVETMVIDHFSIDRNTGEIVIRGNLDFEQENLYKILI
DATDKGHPPMAGHCTVLVRILDKNDNVPEIALTSLSLPVREDAQFGTVIALISVNDLDSGANGQVTCSLMPHVPFKLVST
FKNYYSLVLDSALDRERVSAYELVVTARDGGSPSLWATASLSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAR
DADAQENALVSYSLVERRVGERSLSSYISVHTESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDEND
NAPALLEPRVGGTGGAASKLVPRSVGAGHVVAKVRAVDADSGYNAWLSYELQPAASSPRIPFRVGLYTGEISTTRVLDEA
DSPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRQSAGVLGPEAALVDVNVYLIIAICAVSSLLVLTLLLYTA
LRCSALPTEGGCRAGKPTLVCSSAVGSWSYSQQQPQRVCSGEGPPKTDLMAFSPCLPPDLGSVDVGEEQDLNVDHGLKVS
PFKFRTHKFYLWKL*

Gene Symbol:PCDHA1
Accession:NM_018900
Location:INTRON

Gene Symbol:PCDHA5
Accession:NM_031501
Location:INTRON

Gene Symbol:PCDHA3
Accession:NM_018906
Location:INTRON

Gene Symbol:PCDHA4
Accession:NM_018907
Location:INTRON

Gene Symbol:PCDHA5
Accession:NM_018908
Location:INTRON

Gene Symbol:PCDHA6
Accession:NM_031849
Location:INTRON

Gene Symbol:PCDHA6
Accession:NM_031848
Location:INTRON

Gene Symbol:PCDHA6
Accession:NM_018909
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_031496
Location:INTRON

Gene Symbol:PCDHA3
Accession:NM_031497
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_018905
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_031411
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_031495
Location:INTRON

Gene Symbol:PCDHA7
Accession:NM_031852
Location:INTRON

Gene Symbol:PCDHA4
Accession:NM_031500
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_031410
Location:INTRON

Gene Symbol:PCDHA7
Accession:NM_018910
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003429791 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PCDHA1 CLINVAR
  PCDHA2 CLINVAR
  PCDHA3 CLINVAR
  PCDHA4 CLINVAR
  PCDHA5 CLINVAR
  PCDHA6 CLINVAR
  PCDHA7 CLINVAR
  PCDHA8 CLINVAR
  PCDHA@ CLINVAR
OMIM 604966 CLINVAR
  606307 CLINVAR
  606308 CLINVAR
  606309 CLINVAR
  606310 CLINVAR
  606311 CLINVAR
  606312 CLINVAR
  606313 CLINVAR
  606314 CLINVAR