RGD:156078605 Rat Genome Database

RGD:156078605 Rat Genome Database

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Variant: RGD:156078605 - Homo sapiens

RGD ID:

156078605

ClinVar ID:

CV2248337

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	22	41,257,850
GRCh38	22	40,861,846

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001204827.2:c.*241G>C NM_145174.2:c.149C>G NM_022098.4:c.64+4601G>C NG_028221.1:g.9766G>C More...	11/09/2021	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:	A to A (synonymous)
Amino Acid Position:	50

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	RCV004119493	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	DNAJB7	CLINVAR
	XPNPEP3	CLINVAR
OMIM	611336	CLINVAR
	613553	CLINVAR