rs782809098 Rat Genome Database

rs782809098 Rat Genome Database

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Variant: rs782809098 - Homo sapiens

RGD ID:

15172007

RS ID:

rs782809098

ClinVar ID:

CV734881

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	5	140,503,284
GRCh38	5	141,123,702

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_018938.4:c.1704C>T NG_050761.1:g.6953C>T NG_000017.2:g.91836C>T NC_000005.10:g.141123702C>T More...	12/05/2017	synonymous variant	likely benign	none provided

Gene Symbol:	PCDHB4
Accession:	NM_018938
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	568

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKKLGRIHPNRQVLAFILMVFLSQVRLEPIRYSVLEETESGSFVAHLAKDLGLGIGELASRSARVLSDDDKQRLQLDRQT GDLLLREKLDREELCGPIEPCVLHFQVFLEMPVQFFQGELLIQDINDHSPIFPEREVLLKILENSQPGTLFPLLIAEDLD VGSNGLQKYTISPNSHFHILTRNHSEGKKYPDLVQDKPLDREEQPEFSLTLVALDGGSPPRSGTVMVRILIMDINDNAPE FVHTPYGVQVLENSPLDSPIVRVLARDIDAGNFGSVSYGLFQASDEIKQTFSINEVTGEILLKKKLDFEKIKSYHVEIEA TDGGGLSGKGTVVIEVVDVNDNPPELIISSLTSSIPENAPETVVSIFRIRDRDSGENGKMICSIPDNLPFILKPTLKNFY TLVTERPLDRETSAEYNITIAVTDLGTPRLKTQQNITVQVSDVNDNAPAFTQTSYTLFVRENNSPALHIGSVSATDRDSG TNAQVTYSLLPPQDPHLPLASLVSINADNGHLFALRSLDYEALQAFEFRVGASDRGSPALSSEALVRVLVLDTNDNSPFV LYPLQNGSAPCTELVPRAAEPGYLVTKVVAVDGDSGQNAWLSYQLLKATEPGLFGVWAHNGEVRTARLLSERDAAKHRLV VLVKDNGEPPRSATATLHVLLVDGFSQPYLPLPEAAPAQAQADSLTVYLVVALASVSSLFLFSVLLFVAVRLCRRSRAAS VGRCSVPEGPFPGHLVDVSGTGTLSQSYQYEVCLTGDSGTGEFKFLKPIFPNLLVQDTGREVKENPKFRNSLVFS*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000905583	CLINVAR
dbSNP (RS)	rs782809098	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	PCDHB4	CLINVAR
	PCDHB@	CLINVAR
OMIM	604967	CLINVAR
	606330	CLINVAR