RGD:401768426 Rat Genome Database

RGD:401768426 Rat Genome Database

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Variant: RGD:401768426 - Homo sapiens

RGD ID:

401768426

ClinVar ID:

CV2675327

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	49,689,087
GRCh38	12	49,295,304

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_006262.4:c.104C>G NG_125629.1:g.242C>G NG_008354.1:g.5179C>G NC_000012.12:g.49295304C>G More...	04/06/2023	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2675327	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:	S to W (nonsynonymous)
Amino Acid Position:	35

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYWSSSRFSSSRLLGSASPSSSVRLGSFRSPRAGAGALLRLPSERLDF SMAEALNQEFLATRSNEKQELQELNDRFANFIEKVRFLEQQNAALRGELSQARGQEPARADQLCQQELRELRRELELLGR 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	RCV003260134	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	PRPH	CLINVAR
	TROAP-AS1	CLINVAR
OMIM	170710	CLINVAR