RGD:156123203 Rat Genome Database

RGD:156123203 Rat Genome Database

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

Advanced Search (OLGA)

Variant: RGD:156123203 - Homo sapiens

RGD ID:

156123203

ClinVar ID:

CV1892703

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	22	41,282,488
GRCh38	22	40,886,484

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_022098.4:c.761G>A NG_028221.1:g.34404G>A NC_000022.11:g.40886484G>A NC_000022.10:g.41282488G>A NP_071381.1:p.Arg254Gln More...	08/16/2022	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1892703	Human	nephronophthisis-like nephropathy 1		IAGP		8554872	ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1	ClinVar	PMID:28492532

Gene Symbol:	XPNPEP3
Accession:	NM_022098
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	254

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

Gene Symbol:	XPNPEP3
Accession:	NM_001204827
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003081529	CLINVAR
MedGen	C3150419	CLINVAR
NCBI Gene	XPNPEP3	CLINVAR
OMIM	613159	CLINVAR
	613553	CLINVAR