RGD:155997692 Rat Genome Database

RGD:155997692 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: RGD:155997692 - Homo sapiens

RGD ID:

155997692

ClinVar ID:

CV2393337

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	22	41,257,876
GRCh38	22	40,861,872

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001204827.2:c.*267T>A NM_145174.2:c.123A>T NM_022098.4:c.64+4627T>A NG_028221.1:g.9792T>A More...	05/11/2022	3 prime utr variant	uncertain significance	AllHighlyPenetrant

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

Gene Symbol:	DNAJB7
Accession:	NM_145174
Location:	EXON
Amino Acid Prediction:	E to E (synonymous)
Amino Acid Position:	41

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

Gene Symbol:	XPNPEP3
Accession:	NM_022098
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004228842	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	DNAJB7	CLINVAR
	XPNPEP3	CLINVAR
OMIM	611336	CLINVAR
	613553	CLINVAR