RGD:597631555 Rat Genome Database

RGD:597631555 Rat Genome Database

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Variant: RGD:597631555 - Homo sapiens

RGD ID:

597631555

ClinVar ID:

CV3630384

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	22	41,318,357
GRCh38	22	40,922,353

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_022098.4:c.1076A>G NG_028221.1:g.70273A>G NC_000022.11:g.40922353A>G NC_000022.10:g.41318357A>G More...	08/21/2024	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3630384	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	XPNPEP3
Accession:	NM_022098
Location:	EXON
Amino Acid Prediction:	E to G (nonsynonymous)
Amino Acid Position:	359

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPWLLSAPKLVPAVANVRGLSGCMLCSQRRYSLQPVPERRIPNRYLGQPSPFTHPHLLRPGEVTPGLSQVEYALRRHKLM SLIQKEAQGQSGTDQTVVVLSNPTYYMSNDIPYTFHQDNNFLYLCGFQEPDSILVLQSLPGKQLPSHKAILFVPRRDPSR ELWDGPRSGTDGAIALTGVDEAYTLEEFQHLLPKMKAETNMVWYDWMRPSHAQLHSDYMQPLTEAKAKSKNKVRGVQQLI QRLRLIKSPAEIERMQIAGKLTSQAFIETMFTSKAPVEEAFLYAKFEFECRARGADILAYPPVVAGGNRSNTLHYVKNNQ LIKDGEMVLLDGGCESSCYVSDITRTWPVNGRFTAPQAGLYEAVLEIQRDCLALCFPGTSLENIYSMMLTLIGQKLKDLG IMKNIKENNAFKAARKYCPHHVGHYLGMDVHDTPDMPRSLPLQPGMVITIEPGIYIPEDDKDAPEKFRGLGVRIEDDVVV TQDSPLILSADCPKEMNDIEQICSQAS*

Gene Symbol:	XPNPEP3
Accession:	NM_001204827
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004967566	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	XPNPEP3	CLINVAR
OMIM	613553	CLINVAR