RGD:405796341 Rat Genome Database

RGD:405796341 Rat Genome Database

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Variant: RGD:405796341 - Homo sapiens

RGD ID:

405796341

ClinVar ID:

CV3377562

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127824109 PRPH TROAP-AS1

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	12	49,689,440
GRCh38	12	49,295,657

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_006262.4:c.457C>G NG_008354.1:g.5532C>G NG_125629.1:g.595C>G NC_000012.12:g.49295657C>G More...	10/13/2023	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3377562	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:	R to G (nonsynonymous)
Amino Acid Position:	153

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYSSSSRFSSSRLLGSASPSSSVRLGSFRSPRAGAGALLRLPSERLDF SMAEALNQEFLATRSNEKQELQELNDRFANFIEKVRFLEQQNAALRGELSQARGQEPARADQLCQQELRELRGELELLGR ERDRVQVERDGLAEDLAALKQRLEEETRKREDAEHNLVLFRKDVDDATLSRLELERKIESLMDEIEFLKKLHEEELRDLQ VSVESQQVQQVEVEATVKPELTAALRDIRAQYESIAAKNLQEAEEWYKSKYADLSDAANRNHEALRQAKQEMNESRRQIQ SLTCEVDGLRGTNEALLRQLRELEEQFALEAGGYQAGAARLEEELRQLKEEMARHLREYQELLNVKMALDIEIATYRKLL EGEESRISVPVHSFASLNIKTTVPEVEPPQDSHSRKTVLIKTIETRNGEVVTESQKEQRSELDKSSAHSY*

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004507574	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	PRPH	CLINVAR
	TROAP-AS1	CLINVAR
OMIM	170710	CLINVAR