RGD:401772181 Rat Genome Database

RGD:401772181 Rat Genome Database

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Variant: RGD:401772181 - Homo sapiens

RGD ID:

401772181

ClinVar ID:

CV2687440

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	5	140,503,123
GRCh38	5	141,123,541

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_018938.4:c.1543C>T NG_050761.1:g.6792C>T NG_000017.2:g.91675C>T NC_000005.10:g.141123541C>T More...	03/17/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	PCDHB4
Accession:	NM_018938
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	515

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004300685	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	PCDHB4	CLINVAR
	PCDHB@	CLINVAR
OMIM	604967	CLINVAR
	606330	CLINVAR