RGD:597695238 Rat Genome Database

RGD:597695238 Rat Genome Database

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

Advanced Search (OLGA)

Variant: RGD:597695238 - Homo sapiens

RGD ID:

597695238

ClinVar ID:

CV3727231

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	22	41,277,946
GRCh38	22	40,881,942

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_022098.4:c.354C>A NG_028221.1:g.29862C>A NC_000022.11:g.40881942C>A NC_000022.10:g.41277946C>A NP_071381.1:p.Asp118Glu More...	01/30/2024	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3727231	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:	D to E (nonsynonymous)
Amino Acid Position:	118

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

Gene Symbol:	XPNPEP3
Accession:	NM_001204827
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV005032855	CLINVAR
MedGen	C3150419	CLINVAR
NCBI Gene	XPNPEP3	CLINVAR
OMIM	613159	CLINVAR
	613553	CLINVAR