RGD:8557673 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:8557673 -  Homo sapiens

RGD ID: 8557673
RS ID: rs61754375
ClinVar ID: CV18835
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TYR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 88,924,446
GRCh38 11 89,191,278
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008748.1:g.18407G>A
NC_000011.10:g.89191278G>A
NC_000011.9:g.88924446G>A
NP_000363.1:p.Arg299His
More... 		03/07/2017 missense|missense variant pathogenic|likely pathogenic|not provided neonatal/infancy 1-9 / 100 000 ALBINISM, OCULOCUTANEOUS, TYPE IA; ALBINISM, OCULOCUTANEOUS, TYPE IB; Albinism, yellow mutant type; EYE COLOR 1; EYE COLOR, GREEN/BLUE; none provided; Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYE COLOR; SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING; Skin/hair/eye pigmentation, variation in, 3; Yellow albinism

Variant Details
Variant Transcripts
Gene Symbol:TYR
Accession:XM_011542970
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 299
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQNILLSNAPLGPQFPFTGVDDRESW
PSVFYNRTCQCSGNFMGFNCGNCKFGFWGPNCTERRLLVRRNIFDLSAPEKDKFFAYLTLAKHTISSDYVIPIGTYGQMK
NGSTPMFNDINIYDLFVWMHYYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRLFLLRWEQEIQKLTGDENFTIPYWDWRD
AEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQIVCSRLEEYNSHQSLCNGTPEGPLRHNPGNHDKSRTPRLPSSADVEF
CLSLTQYESGSMDKAANFSFRNTLEGFASPLTGIADASQSSMHNALHIYMNGTMSQVQGSANDPIFLLHHAFVDSIFEQW
LRRHRPLQEVYPEANAPIGHNRESYMVPFIPLYRNGDFFISSKDLGYDYSYLQDSVSQWILFTTKATKFPG*

Gene Symbol:TYR
Accession:NM_000372
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 299
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRSPCGQLSGRGSCQNILLSNAPLGPQFPFTGVDDRESW
PSVFYNRTCQCSGNFMGFNCGNCKFGFWGPNCTERRLLVRRNIFDLSAPEKDKFFAYLTLAKHTISSDYVIPIGTYGQMK
NGSTPMFNDINIYDLFVWMHYYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRLFLLRWEQEIQKLTGDENFTIPYWDWRD
AEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQIVCSRLEEYNSHQSLCNGTPEGPLRHNPGNHDKSRTPRLPSSADVEF
CLSLTQYESGSMDKAANFSFRNTLEGFASPLTGIADASQSSMHNALHIYMNGTMSQVQGSANDPIFLLHHAFVDSIFEQW
LRRHRPLQEVYPEANAPIGHNRESYMVPFIPLYRNGDFFISSKDLGYDYSYLQDSDPDSFQDYIKSYLEQASRIWSWLLG
AAMVGAVLTALLAGLVSLLCRHKRKQLPEEKQPLLMEKEDYHSLYQSHL*
Variant Samples
Additional References at PubMed
PMID:1642278   PMID:19865097   PMID:24721949   PMID:25741868   PMID:25919014   PMID:28112372   PMID:28266639   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004000 CLINVAR
  RCV000085979 CLINVAR
  RCV000755072 CLINVAR
  RCV003156055 CLINVAR
  RCV003460423 CLINVAR
  RCV003488321 CLINVAR
  RCV003492282 CLINVAR
dbSNP (RS) rs61754375 CLINVAR
MedGen C0078918 CLINVAR
  C2677190 CLINVAR
  C3661900 CLINVAR
  C4551504 CLINVAR
  CN263337 CLINVAR
NCBI Gene TYR CLINVAR
OMIM 203100 CLINVAR
  601800 CLINVAR
  606933 CLINVAR
  606952 CLINVAR
OMIM Allele 606933.0026 CLINVAR
SNOMED CT 63844009 CLINVAR
  6483008 CLINVAR