RGD:405788094 Rat Genome Database

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Variant: RGD:405788094 -  Homo sapiens

RGD ID: 405788094
ClinVar ID: CV3371638
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCDHA1  PCDHA10  PCDHA11  PCDHA12  PCDHA13  PCDHA2  PCDHA3  PCDHA4  PCDHA5  PCDHA6  PCDHA7  PCDHA8  PCDHA9  PCDHA@  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 140,264,204
GRCh38 5 140,884,619
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_031860.3:c.1599+26972A>C
NM_031849.3:c.1602+54926A>C
NM_031411.3:c.1603-94330A>C
NM_018904.3:c.2351A>C
More... 		01/04/2024 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PCDHA13
Accession:NM_018904
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 784
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSWQGGPRPRQLLLWLLILAAWETGSGQLHYSVPEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHGDLLEVNLQ
NGILFVNSRIDREELCGRSAECSIHLEVIVDRPLQVFHVEVKVRDINDNPPIFPESKKRIIIAESRPPETRFPLDGASDA
DIGVNSALTYRLDPNDYFTLDAQNSLEQMSSLSLVLRKTLDREEIQEHSLLLTASDGGKPELTGTVQLLITILDVNDNAP
EFYQSVYKVTVLENAFNGTLVIKLNATDPDDGTNGDIVYSFRRPVWPAVVYAFTINPNNGEIRTKGKLDFEEKKLYEISV
EAVDKGNIPMAGHCTLLVEVLDVNDNAPEVTITSLSLPIREDTQPSAIIALISVSDRDSGSNGQVTCTLTPHVPFKLVST
YKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATASVSVGVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAQ
DADAQENALVSYSLVERRVGERALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDSGVPPLGSNVTLQVFVLDEND
NAPALLTPGAGSAGGTVSELMPRSVGAGHVVAKVRAVDADSGYNAWLSYELQLAAVGARIPFRVGLYTGEISTTRPLDEV
DAPHHRLLVLVKDHGEPALTATATVLLSLVESGQAPQASSRASAGAVGPEAALVDVNVYLIIAICAVSSLLVLTLLLYTA
LRCSAPPTEGACAPGKPTLVCSSAAGSWSYSQQRRPRVCSGEGPHKTDLMAFSPSLPPCLGSAAGTGQREEDSECLKEPR
QPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSG
PGELPDKFIIPGSPAIISIRQEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ*

Gene Symbol:PCDHA13
Accession:NM_031865
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 784
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSWQGGPRPRQLLLWLLILAAWETGSGQLHYSVPEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHGDLLEVNLQ
NGILFVNSRIDREELCGRSAECSIHLEVIVDRPLQVFHVEVKVRDINDNPPIFPESKKRIIIAESRPPETRFPLDGASDA
DIGVNSALTYRLDPNDYFTLDAQNSLEQMSSLSLVLRKTLDREEIQEHSLLLTASDGGKPELTGTVQLLITILDVNDNAP
EFYQSVYKVTVLENAFNGTLVIKLNATDPDDGTNGDIVYSFRRPVWPAVVYAFTINPNNGEIRTKGKLDFEEKKLYEISV
EAVDKGNIPMAGHCTLLVEVLDVNDNAPEVTITSLSLPIREDTQPSAIIALISVSDRDSGSNGQVTCTLTPHVPFKLVST
YKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATASVSVGVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAQ
DADAQENALVSYSLVERRVGERALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDSGVPPLGSNVTLQVFVLDEND
NAPALLTPGAGSAGGTVSELMPRSVGAGHVVAKVRAVDADSGYNAWLSYELQLAAVGARIPFRVGLYTGEISTTRPLDEV
DAPHHRLLVLVKDHGEPALTATATVLLSLVESGQAPQASSRASAGAVGPEAALVDVNVYLIIAICAVSSLLVLTLLLYTA
LRCSAPPTEGACAPGKPTLVCSSAAGSWSYSQQRRPRVCSGEGPHKTDLMAFSPSLPPCLGSAAGTGQREEDSECLKEVS
LYFKKLS*

Gene Symbol:PCDHA5
Accession:NM_018908
Location:INTRON

Gene Symbol:PCDHA4
Accession:NM_031500
Location:INTRON

Gene Symbol:PCDHA11
Accession:NM_018902
Location:INTRON

Gene Symbol:PCDHA5
Accession:NM_031501
Location:INTRON

Gene Symbol:PCDHA6
Accession:NM_031848
Location:INTRON

Gene Symbol:PCDHA9
Accession:NM_014005
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_018905
Location:INTRON

Gene Symbol:PCDHA11
Accession:NM_031861
Location:INTRON

Gene Symbol:PCDHA10
Accession:NM_031860
Location:INTRON

Gene Symbol:PCDHA12
Accession:NM_018903
Location:INTRON

Gene Symbol:PCDHA12
Accession:NM_031864
Location:INTRON

Gene Symbol:PCDHA7
Accession:NM_031852
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_031495
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_031496
Location:INTRON

Gene Symbol:PCDHA9
Accession:NM_031857
Location:INTRON

Gene Symbol:PCDHA10
Accession:NM_018901
Location:INTRON

Gene Symbol:PCDHA10
Accession:NM_031859
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_031411
Location:INTRON

Gene Symbol:PCDHA3
Accession:NM_031497
Location:INTRON

Gene Symbol:PCDHA8
Accession:NM_018911
Location:INTRON

Gene Symbol:PCDHA6
Accession:NM_018909
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_018900
Location:INTRON

Gene Symbol:PCDHA4
Accession:NM_018907
Location:INTRON

Gene Symbol:PCDHA8
Accession:NM_031856
Location:INTRON

Gene Symbol:PCDHA7
Accession:NM_018910
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_031410
Location:INTRON

Gene Symbol:PCDHA6
Accession:NM_031849
Location:INTRON

Gene Symbol:PCDHA3
Accession:NM_018906
Location:INTRON

.
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004505233 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PCDHA1 CLINVAR
  PCDHA10 CLINVAR
  PCDHA11 CLINVAR
  PCDHA12 CLINVAR
  PCDHA13 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
  606316 CLINVAR
  606317 CLINVAR
  606318 CLINVAR
  606319 CLINVAR