RGD:156100544 Rat Genome Database

RGD:156100544 Rat Genome Database

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Variant: RGD:156100544 - Homo sapiens

RGD ID:

156100544

ClinVar ID:

CV2367541

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	4	122,254,142
GRCh38	4	121,332,987

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_198179.3:c.631C>G NC_000004.12:g.121332987G>C NC_000004.11:g.122254142G>C NM_198179.2:c.631C>G NP_937822.2:p.Gln211Glu More...	02/27/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	QRFPR
Accession:	NM_198179
Location:	EXON
Amino Acid Prediction:	Q to E (nonsynonymous)
Amino Acid Position:	211

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQALNITPEQFSRLLRDHNLTREQFIALYRLRPLVYTPELPGRAKLALVLTGVLIFALALFGNALVFYVVTRSKAMRTVT NIFICSLALSDLLITFFCIPVTMLQNISDNWLGGAFICKMVPFVQSTAVVTEILTMTCIAVERHQGLVHPFKMKWQYTNR RAFTMLGVVWLVAVIVGSPMWHVQQLEIKYDFLYEKEHICCLEEWTSPVHEKIYTTFILVILFLLPLMVMLILYSKIGYE LWIKKRVGDGSVLRTIHGKEMSKIARKKKRAVIMMVTVVALFAVCWAPFHVVHMMIEYSNFEKEYDDVTIKMIFAIVQII GFSNSICNPIVYAFMNENFKKNVLSAVCYCIVNKTFSPAQRHGNSGITMMRKKAKFSLRENPVEETKGEAFSDGNIEVKL CEQTEEKKKLKRHLALFRSELAENSPLDSGH*

Gene Symbol:	QRFPR
Accession:	XM_017008693
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004211474	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	QRFPR	CLINVAR
OMIM	606925	CLINVAR