RGD:597680365 Rat Genome Database

RGD:597680365 Rat Genome Database

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Variant: RGD:597680365 - Homo sapiens

RGD ID:

597680365

ClinVar ID:

CV3727260

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	22	41,322,384
GRCh38	22	40,926,380

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_022098.4:c.1469C>T NG_028221.1:g.74300C>T NC_000022.11:g.40926380C>T NC_000022.10:g.41322384C>T NP_071381.1:p.Ala490Val More...	06/11/2024	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3727260	Human	nephronophthisis-like nephropathy 1		IAGP		8554872	ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1	ClinVar	PMID:25741868

Gene Symbol:	XPNPEP3
Accession:	NM_022098
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	490

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

Gene Symbol:	XPNPEP3
Accession:	NM_001204827
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV005030914	CLINVAR
MedGen	C3150419	CLINVAR
NCBI Gene	XPNPEP3	CLINVAR
OMIM	613159	CLINVAR
	613553	CLINVAR