RGD:8657774 Rat Genome Database

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Pathways
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Variant: RGD:8657774 -  Homo sapiens

RGD ID: 8657774
ClinVar ID: CV86602
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCDHA1  PCDHA10  PCDHA11  PCDHA12  PCDHA13  PCDHA2  PCDHA3  PCDHA4  PCDHA5  PCDHA6  PCDHA7  PCDHA8  PCDHA9  PCDHA@  PCDHAC1  PCDHAC2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 140,347,054
GRCh38 5 140,967,469
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018908.2:c.2353-11480C>T
NM_018910.2:c.2356-11480C>T
NM_018905.2:c.2389-11480C>T
NM_018906.2:c.2395-11480C>T
More... 		missense variant|intron variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:PCDHAC2
Accession:NM_031883
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQAGTRPAATEHPRLRRPMPWLLLLPLLLLLLLLLPGPAASQLRYSVPEEQAPGALVGNVARALGLELRRLGPGCLRIN
HLGAPSPRYLELDLTSGALFVNERIDREALCEQRPRCLLSLEVLAHNPVAVSAVEVEILDINDNSPRFPRPNYQLQVSES
VAPGARFHIESAQDPDVGANSVQTYELSPSEHFELDLKPLQENSKVLELVLRKGLDREQAALHHLVLTAVDGGISARSGT
AQISVRVLDTNDNSPAFDQSTYRVQLREDSPPGTLVVKLNASDPDEGSNGELRYSLSSYTSDRERQLFSIDASTGEVRVI
GGLDYEEASSYQIYVQATDRGPVPMAGHCKVLVDIVDVNDNAPEVVLTDLYSPVPENATPNTIVAVLSVNDQDSGPNRKV
SLGLEATLPFRLNGFGNSYTLVVSGPLDRERVAVYNITVTATDGGIPQLTSLRTLKVEISDINDNPPSFLEDSYSIYIQE
NNLPGVLLCTVQATDPDEKENAEVTYSLLEREIQGLPVTSYVSINSASGSLYAVNSFDYEKFREFFVTVEAQDKGSPPLS
STVTANVYVVDMNDHAPHILYPTSTNSSAAFEMVPRTAPAGYLVTKVIAMDSDSGQNAWLFYHLAQTSDLDLFKVELHTG
EIRTTRKMGDESGSTFNLTVVVRDNGEPSLSASVAITVAVVDRVSKILPDTQRHVKSPRTYSEITLYLIIALSTVSFIFL
LTIIILSIIKCYRYTAYGTACCGGFCGVRERSPAELYKQANNNIDARIPHGLKVQPHFIEVRGNGSLTKTYCYKACLTAG
SGSDTFMFYNTGAQTGPGPSGAQAAVTDSRNLTGQSGQNAGNLIILKNEAVSQNEVRQWSGGLLQTHAFVTHPPISCDLA
LLSH*

Gene Symbol:PCDHAC2
Accession:NM_018899
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEQAGTRPAATEHPRLRRPMPWLLLLPLLLLLLLLLPGPAASQLRYSVPEEQAPGALVGNVARALGLELRRLGPGCLRIN
HLGAPSPRYLELDLTSGALFVNERIDREALCEQRPRCLLSLEVLAHNPVAVSAVEVEILDINDNSPRFPRPNYQLQVSES
VAPGARFHIESAQDPDVGANSVQTYELSPSEHFELDLKPLQENSKVLELVLRKGLDREQAALHHLVLTAVDGGISARSGT
AQISVRVLDTNDNSPAFDQSTYRVQLREDSPPGTLVVKLNASDPDEGSNGELRYSLSSYTSDRERQLFSIDASTGEVRVI
GGLDYEEASSYQIYVQATDRGPVPMAGHCKVLVDIVDVNDNAPEVVLTDLYSPVPENATPNTIVAVLSVNDQDSGPNRKV
SLGLEATLPFRLNGFGNSYTLVVSGPLDRERVAVYNITVTATDGGIPQLTSLRTLKVEISDINDNPPSFLEDSYSIYIQE
NNLPGVLLCTVQATDPDEKENAEVTYSLLEREIQGLPVTSYVSINSASGSLYAVNSFDYEKFREFFVTVEAQDKGSPPLS
STVTANVYVVDMNDHAPHILYPTSTNSSAAFEMVPRTAPAGYLVTKVIAMDSDSGQNAWLFYHLAQTSDLDLFKVELHTG
EIRTTRKMGDESGSTFNLTVVVRDNGEPSLSASVAITVAVVDRVSKILPDTQRHVKSPRTYSEITLYLIIALSTVSFIFL
LTIIILSIIKCYRYTAYGTACCGGFCGVRERSPAELYKQANNNIDARIPHGLKVQPHFIEVRGNGSLTKTYCYKACLTAG
SGSDTFMFYNTGAQTGPGPSGAQAAVTDSRNLTGQSGQNAGNLIILKNEAVSQNEPRQPNPDWRYSASLRAGMHSSVHLE
EAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIRQEP
TNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ*

Gene Symbol:PCDHA9
Accession:NM_031857
Location:INTRON

Gene Symbol:PCDHA5
Accession:NM_031501
Location:INTRON

Gene Symbol:PCDHA4
Accession:NM_031500
Location:INTRON

Gene Symbol:PCDHA11
Accession:NM_031861
Location:INTRON

Gene Symbol:PCDHAC1
Accession:NM_018898
Location:INTRON

Gene Symbol:PCDHA6
Accession:NM_031848
Location:INTRON

Gene Symbol:PCDHA3
Accession:NM_018906
Location:INTRON

Gene Symbol:PCDHA11
Accession:NM_018902
Location:INTRON

Gene Symbol:PCDHA13
Accession:NM_031865
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_018900
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_031410
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_031496
Location:INTRON

Gene Symbol:PCDHA10
Accession:NM_018901
Location:INTRON

Gene Symbol:PCDHA6
Accession:NM_018909
Location:INTRON

Gene Symbol:PCDHAC1
Accession:NM_031882
Location:INTRON

Gene Symbol:PCDHA9
Accession:NM_014005
Location:INTRON

Gene Symbol:PCDHA10
Accession:NM_031859
Location:INTRON

Gene Symbol:PCDHA3
Accession:NM_031497
Location:INTRON

Gene Symbol:PCDHA7
Accession:NM_018910
Location:INTRON

Gene Symbol:PCDHA13
Accession:NM_018904
Location:INTRON

Gene Symbol:PCDHA12
Accession:NM_031864
Location:INTRON

Gene Symbol:PCDHA5
Accession:NM_018908
Location:INTRON

Gene Symbol:PCDHA8
Accession:NM_018911
Location:INTRON

Gene Symbol:PCDHA8
Accession:NM_031856
Location:INTRON

Gene Symbol:PCDHA12
Accession:NM_018903
Location:INTRON

Gene Symbol:PCDHA4
Accession:NM_018907
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_018905
Location:INTRON

Gene Symbol:PCDHA10
Accession:NM_031860
Location:INTRON

Gene Symbol:PCDHA7
Accession:NM_031852
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_031411
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_031495
Location:INTRON

Gene Symbol:PCDHA6
Accession:NM_031849
Location:INTRON

Variant Samples