rs17844411 Rat Genome Database

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Variant: rs17844411 -  Homo sapiens

RGD ID: 15141715
RS ID: rs17844411
ClinVar ID: CV709668
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCDHB4  PCDHB@  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 140,502,733
GRCh38 5 141,123,151
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018938.4:c.1153C>T
NG_050761.1:g.6402C>T
NG_000017.2:g.91285C>T
NC_000005.10:g.141123151C>T
More... 		12/31/2019 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PCDHB4
Accession:NM_018938
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 385
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKKLGRIHPNRQVLAFILMVFLSQVRLEPIRYSVLEETESGSFVAHLAKDLGLGIGELASRSARVLSDDDKQRLQLDRQT
GDLLLREKLDREELCGPIEPCVLHFQVFLEMPVQFFQGELLIQDINDHSPIFPEREVLLKILENSQPGTLFPLLIAEDLD
VGSNGLQKYTISPNSHFHILTRNHSEGKKYPDLVQDKPLDREEQPEFSLTLVALDGGSPPRSGTVMVRILIMDINDNAPE
FVHTPYGVQVLENSPLDSPIVRVLARDIDAGNFGSVSYGLFQASDEIKQTFSINEVTGEILLKKKLDFEKIKSYHVEIEA
TDGGGLSGKGTVVIEVVDVNDNPPELIISSLTSSIPENAPETVVSIFRIRDRDSGENGKMICSISDNLPFILKPTLKNFY
TLVTERPLDRETSAEYNITIAVTDLGTPRLKTQQNITVQVSDVNDNAPAFTQTSYTLFVRENNSPALHIGSVSATDRDSG
TNAQVTYSLLPPQDPHLPLASLVSINADNGHLFALRSLDYEALQAFEFRVGASDRGSPALSSEALVRVLVLDTNDNSPFV
LYPLQNGSAPCTELVPRAAEPGYLVTKVVAVDGDSGQNAWLSYQLLKATEPGLFGVWAHNGEVRTARLLSERDAAKHRLV
VLVKDNGEPPRSATATLHVLLVDGFSQPYLPLPEAAPAQAQADSLTVYLVVALASVSSLFLFSVLLFVAVRLCRRSRAAS
VGRCSVPEGPFPGHLVDVSGTGTLSQSYQYEVCLTGDSGTGEFKFLKPIFPNLLVQDTGREVKENPKFRNSLVFS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000966350 CLINVAR
dbSNP (RS) rs17844411 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PCDHB4 CLINVAR
  PCDHB@ CLINVAR
OMIM 604967 CLINVAR
  606330 CLINVAR