RGD:401866432 Rat Genome Database

RGD:401866432 Rat Genome Database

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Variant: RGD:401866432 - Homo sapiens

RGD ID:

401866432

ClinVar ID:

CV2775548

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	22	41,257,122
GRCh38	22	40,861,118

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000022.10:g.41257122T>C NM_145174.1:c.877A>G NP_660157.1:p.Lys293Glu NM_001204827.2:c.*12+325T>C More...	06/22/2023	intron variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	XPNPEP3
Accession:	NM_001204827
Location:	3UTRS;INTRON

Gene Symbol:	DNAJB7
Accession:	NM_145174
Location:	EXON
Amino Acid Prediction:	K to Q (nonsynonymous)
Amino Acid Position:	293

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVDYYEVLGLQRYASPEDIKKAYHKVALKWHPDKNPENKEEAERKFKEVAEAYEVLSNDEKRDIYDKYGTEGLNGGGSHF DDECEYGFTFHKPDDVFKEIFHERDPFSFHFFEDSLEDLLNRPGSSYGNRNRDAGYFFSTASEYPIFEKFSSYDTGYTSQ GSLGHEGLTSFSSLAFDNSGMDNYISVTTSDKIVNGRNINTKKIIESDQEREAEDNGELTFFLVNSVANEEGFAKECSWR TQSFNNYSPNSHSSKHVSQYTFVDNDEGGISWVTSNRDPPIFSAGVKEGGKRQKKKRKEVQKKSTKRNC*

Gene Symbol:	XPNPEP3
Accession:	NM_022098
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004350718	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	DNAJB7	CLINVAR
	XPNPEP3	CLINVAR
OMIM	611336	CLINVAR
	613553	CLINVAR