RGD:8657755 Rat Genome Database

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Pathways
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Variant: RGD:8657755 -  Homo sapiens

RGD ID: 8657755
ClinVar ID: CV86581
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCDHA1  PCDHA2  PCDHA3  PCDHA4  PCDHA5  PCDHA@  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 140,201,481
GRCh38 5 140,821,896
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.121G>A
NM_031501.1:c.121G>A
NM_018905.2:c.2388+24544G>A
NM_018906.2:c.2394+18305G>A
More... 		missense variant|intron variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:PCDHA5
Accession:NM_018908
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVYSRRGSLGSRLLLLWLLLAYWKAGSGQLHYSIPEEAKHRTFVGRIAQDLGLELAELVPRLFRVASKGRGDLLEVNLQN
GILFVNSRIDREELCRRRAECSIHLEVIVDRPLQVFHVEVAVKDINDNPPRFSRQEQRLFILESRMPDSRFPLEGASDLD
IGANAQLRYRLNPNEYFDLDVKTNEEETNFLELVLRKSLDREETQEHRLLVIATDGGKPELTGTVQLLINVLDANDNAPE
FDKSIYNVRLLENAPSGTLVIKLNASDADEGINKEIVYFFSNLVLDDVKSKFIINSNTGEIKVNGELDYEDYNSYEINID
AMDKSTFPLSGHCKVVVKLLDVNDNTPEMAITTLFLPVKEDAPLSTVIALISVSDRDSGANGQVTCSLMPHVPFKLVSTF
KNYYSLVLDSALDRESVSVYELVVTARDGGSPSLWATASVSVEVADVNDNAPAFAQPQYTVFVKENNPPGCHIFTVSARD
ADAQENALVSYSLVERRVGERPLSSYVSVHAESGKVYALQPLDHEEVELLQFQVSARDAGVPPLGSNVTLQVFVLDENDN
APALLVPRVGGTGGAVSELVPRSVGAGHVVAKVRAVDPDSGYNAWLSYELQPAPGSARIPFRVGLYTGEISTTRSLDETE
APRHRLLVLVKDHGEPPLTATATVLVSLVESGQAPKASSRASAGAVGPEAALVDVNVYLIIAICAVSSLLVLTLLLYTAL
RCSAQPTEAVCTRGKPTLLCSSAVGSWSYSQQRRQRVCSGEAPPKTDLMAFSPSLPQGPTSTDNPRQPNPDWRYSASLRA
GMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSP
AIISIRQEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ*

Gene Symbol:PCDHA5
Accession:NM_031501
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVYSRRGSLGSRLLLLWLLLAYWKAGSGQLHYSIPEEAKHRTFVGRIAQDLGLELAELVPRLFRVASKGRGDLLEVNLQN
GILFVNSRIDREELCRRRAECSIHLEVIVDRPLQVFHVEVAVKDINDNPPRFSRQEQRLFILESRMPDSRFPLEGASDLD
IGANAQLRYRLNPNEYFDLDVKTNEEETNFLELVLRKSLDREETQEHRLLVIATDGGKPELTGTVQLLINVLDANDNAPE
FDKSIYNVRLLENAPSGTLVIKLNASDADEGINKEIVYFFSNLVLDDVKSKFIINSNTGEIKVNGELDYEDYNSYEINID
AMDKSTFPLSGHCKVVVKLLDVNDNTPEMAITTLFLPVKEDAPLSTVIALISVSDRDSGANGQVTCSLMPHVPFKLVSTF
KNYYSLVLDSALDRESVSVYELVVTARDGGSPSLWATASVSVEVADVNDNAPAFAQPQYTVFVKENNPPGCHIFTVSARD
ADAQENALVSYSLVERRVGERPLSSYVSVHAESGKVYALQPLDHEEVELLQFQVSARDAGVPPLGSNVTLQVFVLDENDN
APALLVPRVGGTGGAVSELVPRSVGAGHVVAKVRAVDPDSGYNAWLSYELQPAPGSARIPFRVGLYTGEISTTRSLDETE
APRHRLLVLVKDHGEPPLTATATVLVSLVESGQAPKASSRASAGAVGPEAALVDVNVYLIIAICAVSSLLVLTLLLYTAL
RCSAQPTEAVCTRGKPTLLCSSAVGSWSYSQQRRQRVCSGEAPPKTDLMAFSPSLPQGPTSTDNVSFLILTSIFPSQFSN
IKCHIHPLFLYLKIMS*

Gene Symbol:PCDHA2
Accession:NM_018905
Location:INTRON

Gene Symbol:PCDHA4
Accession:NM_018907
Location:INTRON

Gene Symbol:PCDHA3
Accession:NM_018906
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_031411
Location:INTRON

Gene Symbol:PCDHA3
Accession:NM_031497
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_031410
Location:INTRON

Gene Symbol:PCDHA4
Accession:NM_031500
Location:INTRON

Gene Symbol:PCDHA1
Accession:NM_018900
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_031495
Location:INTRON

Gene Symbol:PCDHA2
Accession:NM_031496
Location:INTRON

Variant Samples