RGD:156267710 Rat Genome Database

RGD:156267710 Rat Genome Database

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Variant: RGD:156267710 - Homo sapiens

RGD ID:

156267710

ClinVar ID:

CV2305681

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	12	49,690,252
GRCh38	12	49,296,469

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_006262.4:c.644A>G NR_120449.1:n.1603T>C NM_006262.3:c.644A>G NP_006253.2:p.Glu215Gly More...	11/17/2022	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2305681	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	PRPH
Accession:	NM_006262
Location:	EXON
Amino Acid Prediction:	E to G (nonsynonymous)
Amino Acid Position:	215

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYSSSSRFSSSRLLGSASPSSSVRLGSFRSPRAGAGALLRLPSERLDF SMAEALNQEFLATRSNEKQELQELNDRFANFIEKVRFLEQQNAALRGELSQARGQEPARADQLCQQELRELRRELELLGR ERDRVQVERDGLAEDLAALKQRLEEETRKREDAEHNLVLFRKDVDDATLSRLELGRKIESLMDEIEFLKKLHEEELRDLQ VSVESQQVQQVEVEATVKPELTAALRDIRAQYESIAAKNLQEAEEWYKSKYADLSDAANRNHEALRQAKQEMNESRRQIQ SLTCEVDGLRGTNEALLRQLRELEEQFALEAGGYQAGAARLEEELRQLKEEMARHLREYQELLNVKMALDIEIATYRKLL EGEESRISVPVHSFASLNIKTTVPEVEPPQDSHSRKTVLIKTIETRNGEVVTESQKEQRSELDKSSAHSY*

Gene Symbol:	TROAP-AS1
Accession:	NR_120449
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV002920905	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	PRPH	CLINVAR
	TROAP-AS1	CLINVAR
OMIM	170710	CLINVAR