RGD:156178347 Rat Genome Database

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Variant: RGD:156178347 -  Homo sapiens

RGD ID: 156178347
ClinVar ID: CV2355926
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127824109  PRPH  TROAP-AS1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 49,689,449
GRCh38 12 49,295,666
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_006262.4:c.466G>C
NG_008354.1:g.5541G>C
NG_125629.1:g.604G>C
NC_000012.12:g.49295666G>C
More... 		03/16/2022 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2355926Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
Gene Symbol:PRPH
Accession:NM_006262
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYSSSSRFSSSRLLGSASPSSSVRLGSFRSPRAGAGALLRLPSERLDF
SMAEALNQEFLATRSNEKQELQELNDRFANFIEKVRFLEQQNAALRGELSQARGQEPARADQLCQQELRELRRELQLLGR
ERDRVQVERDGLAEDLAALKQRLEEETRKREDAEHNLVLFRKDVDDATLSRLELERKIESLMDEIEFLKKLHEEELRDLQ
VSVESQQVQQVEVEATVKPELTAALRDIRAQYESIAAKNLQEAEEWYKSKYADLSDAANRNHEALRQAKQEMNESRRQIQ
SLTCEVDGLRGTNEALLRQLRELEEQFALEAGGYQAGAARLEEELRQLKEEMARHLREYQELLNVKMALDIEIATYRKLL
EGEESRISVPVHSFASLNIKTTVPEVEPPQDSHSRKTVLIKTIETRNGEVVTESQKEQRSELDKSSAHSY*

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

.


Database
Acc Id
Source(s)
ClinVar RCV002983891 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PRPH CLINVAR
  TROAP-AS1 CLINVAR
OMIM 170710 CLINVAR