RGD:597674651 Rat Genome Database

RGD:597674651 Rat Genome Database

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Variant: RGD:597674651 - Homo sapiens

RGD ID:

597674651

ClinVar ID:

CV3578846

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PCDHA1 PCDHA10 PCDHA11 PCDHA12 PCDHA13 PCDHA2 PCDHA3 PCDHA4 PCDHA5 PCDHA6 PCDHA7 PCDHA8 PCDHA9 PCDHA@ PCDHAC1

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	5	140,307,265
GRCh38	5	140,927,680

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_031860.3:c.1600-51269G>C NM_031411.3:c.1603-51269G>C NP_114088.2:p.Gly263Ala NM_031849.3:c.1603-51269G>C More...	08/19/2024	intron variant	uncertain significance	AllHighlyPenetrant

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004836729	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	PCDHA1	CLINVAR
	PCDHA10	CLINVAR
	PCDHA11	CLINVAR
	PCDHA12	CLINVAR
	PCDHA13	CLINVAR
	PCDHA2	CLINVAR
	PCDHA3	CLINVAR
	PCDHA4	CLINVAR
	PCDHA5	CLINVAR
	PCDHA6	CLINVAR
	PCDHA7	CLINVAR
	PCDHA8	CLINVAR
	PCDHA9	CLINVAR
	PCDHA@	CLINVAR
	PCDHAC1	CLINVAR
OMIM	604966	CLINVAR
	606307	CLINVAR
	606308	CLINVAR
	606309	CLINVAR
	606310	CLINVAR
	606311	CLINVAR
	606312	CLINVAR
	606313	CLINVAR
	606314	CLINVAR
	606315	CLINVAR
	606316	CLINVAR
	606317	CLINVAR
	606318	CLINVAR
	606319	CLINVAR
	606320	CLINVAR