RGD:407482712 Rat Genome Database

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Variant: RGD:407482712 -  Homo sapiens

RGD ID: 407482712
ClinVar ID: CV3462968
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCDHA1  PCDHA10  PCDHA11  PCDHA12  PCDHA2  PCDHA3  PCDHA4  PCDHA5  PCDHA6  PCDHA7  PCDHA8  PCDHA9  PCDHA@  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 140,256,025
GRCh38 5 140,876,440
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_031857.2:c.2394+25551T>C
NM_018911.3:c.2394+32725T>C
NM_018909.4:c.2394+45955T>C
NM_018906.3:c.2394+72849T>C
More... 		04/04/2024 intron variant uncertain significance AllHighlyPenetrant

Gene Symbol:PCDHA12
Accession:NM_018903
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 323
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVIIGPRGPGSQRLLLSLLLLAAWEVGSGQLHYSVYEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHGDLLEVNLQ
NGILFVNSRIDREKLCGRSAECSIHLEVIVDRPLQVFHVDVEVKDINDNPPVFREREQKVPVSESAPLDSHFPLEGASDA
DIGVNSLLTYALSLNENFELKIKTKKDKSILPELVLRKLLDREQTPKLNLLLMVIDGGKPELTGSVQIQITVLDVNDNGP
AFDKPSYKVVLSENVQNDTRVIQLNASDPDEGLNGEISYGIKMILPVSEKCMFSINPDTGEIRIYGELDFEENNAYEIQV
NATDKGIPSMAGHSMVLVEVLDVNDNVPEVMVTSLSLPVQEDAQVGTVIALISVSDRDSGANGQVICSLTPHVPFKLVST
YKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATARVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAW
DADAQKNALVSYSLVERRVGEHALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDEND
NAPALLATPAGSAGGAVSELVPRSVGAGHVVAKVRAVDADSGYNAWLSYELQPAAVGAHIPFHVGLYTGEISTTRILDEA
DAPRHRLLVLVKDHGEPALTSTATVLVSLVENGQAPKTSSRASVGAVDPEAALVDINVYLIIAICAVSSLLVLTLLLYTA
LRCSAPPTVSRCAPGKPTLVCSSAVGSWSYSQQRRQRVCSAESPPKTDLMAFSPSLQLSREDCLNPPSEPRQPNPDWRYS
ASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFI
IPGSPAIISIRQEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ*

Gene Symbol:PCDHA12
Accession:NM_031864
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 323
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVIIGPRGPGSQRLLLSLLLLAAWEVGSGQLHYSVYEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKRHGDLLEVNLQ
NGILFVNSRIDREKLCGRSAECSIHLEVIVDRPLQVFHVDVEVKDINDNPPVFREREQKVPVSESAPLDSHFPLEGASDA
DIGVNSLLTYALSLNENFELKIKTKKDKSILPELVLRKLLDREQTPKLNLLLMVIDGGKPELTGSVQIQITVLDVNDNGP
AFDKPSYKVVLSENVQNDTRVIQLNASDPDEGLNGEISYGIKMILPVSEKCMFSINPDTGEIRIYGELDFEENNAYEIQV
NATDKGIPSMAGHSMVLVEVLDVNDNVPEVMVTSLSLPVQEDAQVGTVIALISVSDRDSGANGQVICSLTPHVPFKLVST
YKNYYSLVLDSALDRESVSAYELVVTARDGGSPSLWATARVSVEVADVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAW
DADAQKNALVSYSLVERRVGEHALSSYVSVHAESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDEND
NAPALLATPAGSAGGAVSELVPRSVGAGHVVAKVRAVDADSGYNAWLSYELQPAAVGAHIPFHVGLYTGEISTTRILDEA
DAPRHRLLVLVKDHGEPALTSTATVLVSLVENGQAPKTSSRASVGAVDPEAALVDINVYLIIAICAVSSLLVLTLLLYTA
LRCSAPPTVSRCAPGKPTLVCSSAVGSWSYSQQRRQRVCSAESPPKTDLMAFSPSLQLSREDCLNPPSEVSY*

Gene Symbol:PCDHA9
Accession:NM_031857
Location:INTRON

Gene Symbol:PCDHA9
Accession:NM_014005
Location:INTRON

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:PCDHA10
Accession:NM_018901
Location:INTRON

Gene Symbol:PCDHA10
Accession:NM_031860
Location:INTRON

Gene Symbol:PCDHA10
Accession:NM_031859
Location:INTRON

Gene Symbol:PCDHA11
Accession:NM_018902
Location:INTRON

Gene Symbol:PCDHA11
Accession:NM_031861
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

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1 to 28 of 28 rows
Database
Acc Id
Source(s)
ClinVar RCV004653101 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PCDHA1 CLINVAR
  PCDHA10 CLINVAR
  PCDHA11 CLINVAR
  PCDHA12 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
1 to 28 of 28 rows