RGD:329402746 Rat Genome Database

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Variant: RGD:329402746 -  Homo sapiens

RGD ID: 329402746
ClinVar ID: CV2451313
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCDHB15  PCDHB@  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 140,625,790
GRCh38 5 141,246,222
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018935.4:c.644T>C
NG_000017.2:g.214343T>C
NC_000005.10:g.141246222T>C
NC_000005.9:g.140625790T>C
More... 		02/06/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PCDHB15
Accession:NM_018935
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAGERFPEQRQVLILLLLLEVTLAGWEPRRYSVMEETERGSFVANLANDLGLGVGELAERGARVVSEDNEQGLQLDLQ
TGQLILNEKLDREKLCGPTEPCIMHFQVLLKKPLEVFRAELLVTDINDHSPEFPEREMTLKIPETSSLGTVFPLKKARDL
DVGSNNVQNYNISPNSHFHVSTRTRGDGRKYPELVLDTELDREEQAELRLTLTAADGGSPPRSGTVQILILVLDANDNAP
EFVQALYEVQVPENSPVGSLVVKVSARDLDTGTNGEISYSLYYSSQEIDKPFELSSLSGEIRLIKKLDFETMSSYDLDIE
ASDGGGLSGKCSVSVKVLDVNDNFPELSISSLTSPIPENSPETEVALFRIRDRDSGENGKMICSIQDDVPFKLKPSVENF
YRLVTEGALDRETRAEYNITITITDLGTPRLKTEQSITVLVSDVNDNAPAFTQTSYTLFVRENNSPALHIGSVSATDRDS
GTNAQVTYSLLPPRDPHLPLTSLVSINTDNGHLFALQSLDYEALQAFEFRVGATDRGFPALSSEALVRVLVLDANDNSPF
VLYPLQNGSAPCTELVPRAAEPGYLVTKVVAVDGDSGQNAWLSYQLLKATEPGLFGVWAHNGEVRTARLLSERDVAKHRL
VVLVKDNGEPPRSATATLQVLLVDGFSQPYLPLPEAAPAQAQADSLTVYLVVALASVSSLFLFSVFLFVAVRLCRRSRAA
SVGRCSVPEGPFPGHLVDVSGTGTLSQSYQYEVCLTGGSESNDFKFLKPIFPNIVSQDSRRKSEFLE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004272007 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PCDHB15 CLINVAR
  PCDHB@ CLINVAR
OMIM 604967 CLINVAR
  606341 CLINVAR