RGD:405668473 Rat Genome Database

RGD:405668473 Rat Genome Database

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Variant: RGD:405668473 - Homo sapiens

RGD ID:

405668473

ClinVar ID:

CV3308286

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	4	122,250,782
GRCh38	4	121,329,627

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_198179.3:c.983A>T NC_000004.12:g.121329627T>A NC_000004.11:g.122250782T>A NM_198179.2:c.983A>T NP_937822.2:p.Asn328Ile More...	01/31/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	QRFPR
Accession:	NM_198179
Location:	EXON
Amino Acid Prediction:	N to I (nonsynonymous)
Amino Acid Position:	328

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQALNITPEQFSRLLRDHNLTREQFIALYRLRPLVYTPELPGRAKLALVLTGVLIFALALFGNALVFYVVTRSKAMRTVT NIFICSLALSDLLITFFCIPVTMLQNISDNWLGGAFICKMVPFVQSTAVVTEILTMTCIAVERHQGLVHPFKMKWQYTNR RAFTMLGVVWLVAVIVGSPMWHVQQLEIKYDFLYEKEHICCLEEWTSPVHQKIYTTFILVILFLLPLMVMLILYSKIGYE LWIKKRVGDGSVLRTIHGKEMSKIARKKKRAVIMMVTVVALFAVCWAPFHVVHMMIEYSNFEKEYDDVTIKMIFAIVQII GFSNSICIPIVYAFMNENFKKNVLSAVCYCIVNKTFSPAQRHGNSGITMMRKKAKFSLRENPVEETKGEAFSDGNIEVKL CEQTEEKKKLKRHLALFRSELAENSPLDSGH*

Gene Symbol:	QRFPR
Accession:	XM_017008693
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004440758	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	QRFPR	CLINVAR
OMIM	606925	CLINVAR