TYRP1 (tyrosinase related protein 1) - Rat Genome Database

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Gene: TYRP1 (tyrosinase related protein 1) Homo sapiens
Analyze
Symbol: TYRP1
Name: tyrosinase related protein 1
RGD ID: 1351708
HGNC Page HGNC
Description: Enables monophenol monooxygenase activity. Involved in positive regulation of melanin biosynthetic process. Located in clathrin-coated endocytic vesicle membrane and endosome membrane. Implicated in oculocutaneous albinism; oculocutaneous albinism type III; and pigmentation disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 5,6-dihydroxyindole-2-carboxylic acid oxidase; b-PROTEIN; CAS2; catalase B; CATB; DHICA oxidase; glycoprotein 75; GP75; melanoma antigen gp75; OCA3; SHEP11; TRP; TRP-1; TRP1; tyrosinase-related protein 1; TYRP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl912,685,439 - 12,710,285 (+)EnsemblGRCh38hg38GRCh38
GRCh38912,693,375 - 12,710,285 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37912,693,385 - 12,710,285 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36912,683,449 - 12,700,258 (+)NCBINCBI36hg18NCBI36
Build 34912,683,448 - 12,700,258NCBI
Celera912,625,996 - 12,642,868 (+)NCBI
Cytogenetic Map9p23NCBI
HuRef912,658,087 - 12,674,962 (+)NCBIHuRef
CHM1_1912,693,770 - 12,710,634 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-artemisinic acid  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4-tert-butylphenol  (EXP)
5-fluorouracil  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
afzelin  (EXP)
all-trans-retinoic acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
cannabidiol  (EXP)
chaetocin  (ISO)
chlorambucil  (ISO)
chlorogenic acid  (EXP)
cocaine  (ISO)
colforsin daropate hydrochloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
decabromodiphenyl ether  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
emodin  (EXP)
etoposide  (EXP)
formaldehyde  (EXP)
gemcitabine  (EXP)
genistein  (EXP)
isorhamnetin  (ISO)
kojic acid  (ISO)
lamivudine  (EXP)
Lasiocarpine  (EXP)
LY294002  (ISO)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (EXP,ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel sulfate  (EXP)
nonanedioic acid  (ISO)
O-methyleugenol  (EXP)
phytol  (ISO)
Pomiferin  (EXP)
puerarin  (EXP)
quercetin  (ISO)
resorcinol  (ISO)
resveratrol  (EXP)
Rosavin  (EXP)
rotenone  (EXP)
SB 203580  (EXP)
SB 431542  (EXP)
Scoparone  (ISO)
Sweroside  (ISO)
taurine  (ISO)
testosterone enanthate  (EXP)
theophylline  (ISO)
triclosan  (EXP)
valproic acid  (EXP,ISO)
vemurafenib  (EXP)
vorinostat  (EXP)
zidovudine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1321344   PMID:1575733   PMID:1577487   PMID:1673236   PMID:1693779   PMID:1769662   PMID:1906272   PMID:1945866   PMID:2111010   PMID:2324688   PMID:7881448   PMID:8040609  
PMID:8530077   PMID:9345097   PMID:9434945   PMID:9447965   PMID:9872531   PMID:10952393   PMID:11441007   PMID:11775055   PMID:12011806   PMID:12477932   PMID:12519123   PMID:12643545  
PMID:12766061   PMID:14623273   PMID:14634018   PMID:15489334   PMID:15996218   PMID:16344560   PMID:16354686   PMID:16704458   PMID:16934245   PMID:17071589   PMID:17081065   PMID:17200659  
PMID:17766092   PMID:18029348   PMID:18312627   PMID:18326704   PMID:18463683   PMID:18488027   PMID:18488028   PMID:18563784   PMID:18680187   PMID:19060277   PMID:19240061   PMID:19287070  
PMID:19384953   PMID:19710684   PMID:19841138   PMID:19865097   PMID:19913121   PMID:20221248   PMID:20585627   PMID:20628086   PMID:20668223   PMID:20861488   PMID:21291857   PMID:21324755  
PMID:21739261   PMID:21873635   PMID:21996312   PMID:22045183   PMID:22190034   PMID:22447455   PMID:22556244   PMID:22898827   PMID:23190901   PMID:23416839   PMID:23519055   PMID:23548203  
PMID:23862152   PMID:24475287   PMID:24529757   PMID:25054620   PMID:25240771   PMID:25837821   PMID:26068396   PMID:26170170   PMID:26252096   PMID:26450459   PMID:28186599   PMID:28514442  
PMID:28990327   PMID:28991221   PMID:29087386   PMID:31077632   PMID:31586073   PMID:31947795   PMID:32296183   PMID:32915910   PMID:33314655  


Genomics

Comparative Map Data
TYRP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl912,685,439 - 12,710,285 (+)EnsemblGRCh38hg38GRCh38
GRCh38912,693,375 - 12,710,285 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37912,693,385 - 12,710,285 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36912,683,449 - 12,700,258 (+)NCBINCBI36hg18NCBI36
Build 34912,683,448 - 12,700,258NCBI
Celera912,625,996 - 12,642,868 (+)NCBI
Cytogenetic Map9p23NCBI
HuRef912,658,087 - 12,674,962 (+)NCBIHuRef
CHM1_1912,693,770 - 12,710,634 (+)NCBICHM1_1
Tyrp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39480,752,360 - 80,769,973 (+)NCBIGRCm39mm39
GRCm39 Ensembl480,752,360 - 80,769,956 (+)Ensembl
GRCm38480,834,123 - 80,851,736 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl480,834,123 - 80,851,719 (+)EnsemblGRCm38mm10GRCm38
MGSCv37480,480,134 - 80,497,622 (+)NCBIGRCm37mm9NCBIm37
MGSCv36480,305,461 - 80,322,949 (+)NCBImm8
Celera479,387,103 - 79,404,579 (+)NCBICelera
Cytogenetic Map4C3NCBI
cM Map437.89NCBI
Tyrp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2595,280,982 - 95,299,516 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl595,280,982 - 95,299,516 (+)Ensembl
Rnor_6.0598,387,291 - 98,406,083 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl598,387,291 - 98,406,083 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05102,430,674 - 102,449,645 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4599,518,306 - 99,537,289 (+)NCBIRGSC3.4rn4RGSC3.4
Celera593,854,189 - 93,872,732 (+)NCBICelera
Cytogenetic Map5q31NCBI
Tyrp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543415,913,968 - 15,931,740 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543415,913,208 - 15,932,193 (+)NCBIChiLan1.0ChiLan1.0
TYRP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1912,950,831 - 12,996,808 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl912,950,831 - 12,996,799 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0912,502,610 - 12,550,203 (+)NCBIMhudiblu_PPA_v0panPan3
TYRP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11133,317,084 - 33,336,029 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1133,317,121 - 33,335,498 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1132,027,482 - 32,045,312 (+)NCBI
ROS_Cfam_1.01134,222,689 - 34,240,515 (+)NCBI
UMICH_Zoey_3.11132,928,733 - 32,946,547 (+)NCBI
UNSW_CanFamBas_1.01132,713,987 - 32,731,848 (+)NCBI
UU_Cfam_GSD_1.01133,376,152 - 33,394,014 (+)NCBI
Tyrp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947148,084,995 - 148,102,753 (+)NCBI
SpeTri2.0NW_0049365396,537,448 - 6,555,440 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TYRP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1209,725,636 - 209,745,705 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11209,725,698 - 209,745,141 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21233,661,356 - 233,680,103 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TYRP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11266,841,867 - 66,861,730 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1266,842,926 - 66,859,842 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603855,076,959 - 55,095,761 (-)NCBIVero_WHO_p1.0
Tyrp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473617,011,092 - 17,028,689 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH48698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37912,700,090 - 12,700,272UniSTSGRCh37
Build 36912,690,090 - 12,690,272RGDNCBI36
Celera912,632,692 - 12,632,874RGD
Cytogenetic Map9p23UniSTS
HuRef912,664,783 - 12,664,965UniSTS
GeneMap99-GB4 RH Map953.45UniSTS
NCBI RH Map9189.6UniSTS
D9S1701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37912,709,882 - 12,710,223UniSTSGRCh37
Build 36912,699,882 - 12,700,223RGDNCBI36
Celera912,642,486 - 12,642,827RGD
Cytogenetic Map9p23UniSTS
HuRef912,674,580 - 12,674,921UniSTS
TNG Radiation Hybrid Map96013.0UniSTS
Stanford-G3 RH Map9467.0UniSTS
GeneMap99-GB4 RH Map953.75UniSTS
Whitehead-RH Map954.8UniSTS
Whitehead-YAC Contig Map9 UniSTS
NCBI RH Map9189.6UniSTS
GeneMap99-G3 RH Map9467.0UniSTS
G44332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37912,709,087 - 12,709,236UniSTSGRCh37
Build 36912,699,087 - 12,699,236RGDNCBI36
Celera912,641,699 - 12,641,848RGD
Cytogenetic Map9p23UniSTS
HuRef912,673,793 - 12,673,942UniSTS
GDB:181637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37912,708,978 - 12,709,233UniSTSGRCh37
Build 36912,698,978 - 12,699,233RGDNCBI36
Celera912,641,590 - 12,641,845RGD
Cytogenetic Map9p23UniSTS
HuRef912,673,684 - 12,673,939UniSTS
GDB:555709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37912,708,977 - 12,709,352UniSTSGRCh37
Build 36912,698,977 - 12,699,352RGDNCBI36
Celera912,641,589 - 12,641,964RGD
Cytogenetic Map9p23UniSTS
HuRef912,673,683 - 12,674,058UniSTS
RH69338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37912,696,263 - 12,696,394UniSTSGRCh37
Build 36912,686,263 - 12,686,394RGDNCBI36
Celera912,628,860 - 12,628,991RGD
Cytogenetic Map9p23UniSTS
HuRef912,660,951 - 12,661,082UniSTS
GeneMap99-GB4 RH Map953.45UniSTS
NCBI RH Map9189.6UniSTS
RH69255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37912,697,388 - 12,697,532UniSTSGRCh37
Build 36912,687,388 - 12,687,532RGDNCBI36
Celera912,629,985 - 12,630,129RGD
Cytogenetic Map9p23UniSTS
HuRef912,662,076 - 12,662,220UniSTS
GeneMap99-GB4 RH Map953.45UniSTS
NCBI RH Map9189.6UniSTS
RH18096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37912,709,878 - 12,710,069UniSTSGRCh37
Build 36912,699,878 - 12,700,069RGDNCBI36
Celera912,642,482 - 12,642,673RGD
Cytogenetic Map9p23UniSTS
HuRef912,674,576 - 12,674,767UniSTS
GeneMap99-GB4 RH Map953.45UniSTS
NCBI RH Map9189.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1073
Count of miRNA genes:587
Interacting mature miRNAs:638
Transcripts:ENST00000381136, ENST00000381137, ENST00000381142, ENST00000388918, ENST00000459790, ENST00000470909, ENST00000473504, ENST00000473763
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 2 21 1
Medium 16 293 2 8 7 2 1132 195 7 27 10 57 7 4 603
Low 560 1419 60 69 149 32 988 664 622 134 491 687 38 58 807
Below cutoff 1634 800 1044 320 537 207 1978 1262 2822 118 642 504 117 1 966 1311 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF001295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL600654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY395736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY395737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD679533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR407683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D83059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA278582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF675477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L33830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L38952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X51420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X51455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X60955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000381136   ⟹   ENSP00000370528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl912,695,720 - 12,709,235 (+)Ensembl
RefSeq Acc Id: ENST00000381142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl912,698,506 - 12,709,267 (+)Ensembl
RefSeq Acc Id: ENST00000388918   ⟹   ENSP00000373570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl912,693,385 - 12,710,285 (+)Ensembl
RefSeq Acc Id: ENST00000459790
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl912,693,309 - 12,694,487 (+)Ensembl
RefSeq Acc Id: ENST00000470909
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl912,701,645 - 12,702,442 (+)Ensembl
RefSeq Acc Id: ENST00000473504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl912,707,671 - 12,709,294 (+)Ensembl
RefSeq Acc Id: ENST00000473763   ⟹   ENSP00000419006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl912,685,439 - 12,694,303 (+)Ensembl
RefSeq Acc Id: NM_000550   ⟹   NP_000541
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38912,693,385 - 12,710,285 (+)NCBI
GRCh37912,693,385 - 12,710,285 (+)NCBI
Build 36912,683,449 - 12,700,258 (+)NCBI Archive
HuRef912,658,087 - 12,674,962 (+)ENTREZGENE
CHM1_1912,693,770 - 12,710,634 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001746372
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38912,693,375 - 12,710,089 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000541   ⟸   NM_000550
- Peptide Label: precursor
- UniProtKB: P17643 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000373570   ⟸   ENST00000388918
RefSeq Acc Id: ENSP00000419006   ⟸   ENST00000473763
RefSeq Acc Id: ENSP00000370528   ⟸   ENST00000381136
Protein Domains
Tyrosinase_Cu-bd

Promoters
RGD ID:7214675
Promoter ID:EPDNEW_H13083
Type:initiation region
Name:TYRP1_1
Description:tyrosinase related protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13082  EPDNEW_H13084  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38912,693,452 - 12,693,512EPDNEW
RGD ID:7214679
Promoter ID:EPDNEW_H13084
Type:initiation region
Name:TYRP1_2
Description:tyrosinase related protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13082  EPDNEW_H13083  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38912,693,935 - 12,693,995EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000550.3(TYRP1):c.277C>T (p.Arg93Cys) single nucleotide variant Skin/hair/eye pigmentation, variation in, 11 [RCV000024318]|not provided [RCV001048857] Chr9:12694273 [GRCh38]
Chr9:12694273 [GRCh37]
Chr9:9p23
pathogenic|affects|uncertain significance
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) deletion Albinism [RCV000504733]|Oculocutaneous albinism type 3 [RCV000019158]|not provided [RCV000724728] Chr9:12704545 [GRCh38]
Chr9:12704545 [GRCh37]
Chr9:9p23
pathogenic
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter) single nucleotide variant OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF [RCV000019160]|Oculocutaneous albinism type 3 [RCV000019159]|not provided [RCV000373290] Chr9:12695626 [GRCh38]
Chr9:12695626 [GRCh37]
Chr9:9p23
pathogenic|risk factor
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter) single nucleotide variant Oculocutaneous albinism type 3 [RCV000019161] Chr9:12704564 [GRCh38]
Chr9:12704564 [GRCh37]
Chr9:9p23
pathogenic
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) single nucleotide variant Nonsyndromic Oculocutaneous Albinism [RCV000755096]|Oculocutaneous albinism type 3 [RCV000019162] Chr9:12702424 [GRCh38]
Chr9:12702424 [GRCh37]
Chr9:9p23
pathogenic|likely pathogenic
NM_000550.3(TYRP1):c.107del (p.Ala35_Leu36insTer) deletion Oculocutaneous albinism type 3 [RCV000019163] Chr9:12694101 [GRCh38]
Chr9:12694101 [GRCh37]
Chr9:9p23
pathogenic
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) deletion Oculocutaneous albinism type 3 [RCV000019164]|not provided [RCV001380027] Chr9:12702411..12702414 [GRCh38]
Chr9:12702411..12702414 [GRCh37]
Chr9:9p23
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 copy number loss See cases [RCV000050831] Chr9:204193..13974100 [GRCh38]
Chr9:204193..13974099 [GRCh37]
Chr9:194193..13964099 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1 copy number loss See cases [RCV000050580] Chr9:9661633..18034356 [GRCh38]
Chr9:9661633..18034354 [GRCh37]
Chr9:9651633..18024354 [NCBI36]
Chr9:9p23-22.2
pathogenic
GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1 copy number loss See cases [RCV000051021] Chr9:11086096..17636671 [GRCh38]
Chr9:11086096..17636669 [GRCh37]
Chr9:11076096..17626669 [NCBI36]
Chr9:9p23-22.2
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1 copy number loss See cases [RCV000052899] Chr9:11818291..17963882 [GRCh38]
Chr9:11818291..17963880 [GRCh37]
Chr9:11808291..17953880 [NCBI36]
Chr9:9p23-22.2
pathogenic
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 copy number loss See cases [RCV000052856] Chr9:211087..13754567 [GRCh38]
Chr9:211087..13754566 [GRCh37]
Chr9:201087..13744566 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] Chr9:204193..13276053 [GRCh38]
Chr9:204193..13276052 [GRCh37]
Chr9:194193..13266052 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] Chr9:204193..13454719 [GRCh38]
Chr9:204193..13454718 [GRCh37]
Chr9:194193..13444718 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] Chr9:203993..13753101 [GRCh38]
Chr9:203993..13753100 [GRCh37]
Chr9:193993..13743100 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3 copy number gain See cases [RCV000053749] Chr9:9543538..30266463 [GRCh38]
Chr9:9543538..30266461 [GRCh37]
Chr9:9533538..30256461 [NCBI36]
Chr9:9p23-21.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_000550.3(TYRP1):c.786G>A (p.Thr262=) single nucleotide variant Oculocutaneous albinism type 3 [RCV001165808] Chr9:12698528 [GRCh38]
Chr9:12698528 [GRCh37]
Chr9:12688528 [NCBI36]
Chr9:9p23
uncertain significance|not provided
NM_000550.2(TYRP1):c.1144C>T (p.Leu382=) single nucleotide variant Malignant melanoma [RCV000068544] Chr9:12704588 [GRCh38]
Chr9:12704588 [GRCh37]
Chr9:12694588 [NCBI36]
Chr9:9p23
not provided
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) single nucleotide variant Oculocutaneous albinism type 3 [RCV000399302]|not provided [RCV001515414]|not specified [RCV000175632] Chr9:12694274 [GRCh38]
Chr9:12694274 [GRCh37]
Chr9:9p23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 9p23(chr9:10527668-13276053)x3 copy number gain See cases [RCV000133874] Chr9:10527668..13276053 [GRCh38]
Chr9:10527668..13276052 [GRCh37]
Chr9:10517668..13266052 [NCBI36]
Chr9:9p23
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p23(chr9:12196142-12794564)x3 copy number gain See cases [RCV000134360] Chr9:12196142..12794564 [GRCh38]
Chr9:12196142..12794563 [GRCh37]
Chr9:12186142..12784563 [NCBI36]
Chr9:9p23
likely benign
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 copy number loss See cases [RCV000134126] Chr9:204090..13146846 [GRCh38]
Chr9:204090..13146845 [GRCh37]
Chr9:194090..13136845 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p23(chr9:12387840-12984159)x3 copy number gain See cases [RCV000134978] Chr9:12387840..12984159 [GRCh38]
Chr9:12387840..12984158 [GRCh37]
Chr9:12377840..12974158 [NCBI36]
Chr9:9p23
likely benign
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p23(chr9:12286919-12816767)x3 copy number gain See cases [RCV000138091] Chr9:12286919..12816767 [GRCh38]
Chr9:12286919..12816766 [GRCh37]
Chr9:12276919..12806766 [NCBI36]
Chr9:9p23
uncertain significance
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3
pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p23(chr9:12449564-12739193)x1 copy number loss See cases [RCV000142055] Chr9:12449564..12739193 [GRCh38]
Chr9:12449564..12739192 [GRCh37]
Chr9:12439564..12729192 [NCBI36]
Chr9:9p23
uncertain significance
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
NM_000550.3(TYRP1):c.785C>T (p.Thr262Met) single nucleotide variant Oculocutaneous albinism type 3 [RCV001165807]|not provided [RCV000178121] Chr9:12698527 [GRCh38]
Chr9:12698527 [GRCh37]
Chr9:9p23
conflicting interpretations of pathogenicity|uncertain significance
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) single nucleotide variant Oculocutaneous albinism type 3 [RCV000988141]|not provided [RCV000956704]|not specified [RCV000180177] Chr9:12709125 [GRCh38]
Chr9:12709125 [GRCh37]
Chr9:9p23
benign
NM_000550.3(TYRP1):c.1500G>A (p.Leu500=) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167995]|not provided [RCV000885666]|not specified [RCV000180178] Chr9:12709068 [GRCh38]
Chr9:12709068 [GRCh37]
Chr9:9p23
benign|likely benign|conflicting interpretations of pathogenicity
NM_000550.3(TYRP1):c.1145T>C (p.Leu382Pro) single nucleotide variant Oculocutaneous albinism type 3 [RCV000192929] Chr9:12704589 [GRCh38]
Chr9:12704589 [GRCh37]
Chr9:9p23
likely pathogenic
NM_000550.3(TYRP1):c.1411C>T (p.Arg471Trp) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167993]|not provided [RCV001303887]|not specified [RCV000193567] Chr9:12708979 [GRCh38]
Chr9:12708979 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.1138G>T (p.Ala380Ser) single nucleotide variant not provided [RCV001556107]|not specified [RCV000194898] Chr9:12704582 [GRCh38]
Chr9:12704582 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000550.3(TYRP1):c.729T>C (p.Ser243=) single nucleotide variant Oculocutaneous albinism type 3 [RCV000401262]|not provided [RCV001512762]|not specified [RCV000243810] Chr9:12698471 [GRCh38]
Chr9:12698471 [GRCh37]
Chr9:9p23
benign|likely benign
NM_000550.3(TYRP1):c.1082-9T>C single nucleotide variant Oculocutaneous albinism type 3 [RCV000333242]|not provided [RCV000889705]|not specified [RCV000246234] Chr9:12704517 [GRCh38]
Chr9:12704517 [GRCh37]
Chr9:9p23
benign|likely benign|uncertain significance
NM_000550.3(TYRP1):c.1261+20C>T single nucleotide variant not provided [RCV001511935]|not specified [RCV000251189] Chr9:12704725 [GRCh38]
Chr9:12704725 [GRCh37]
Chr9:9p23
benign
NM_000550.3(TYRP1):c.913+9C>T single nucleotide variant Oculocutaneous albinism type 3 [RCV000308901]|not provided [RCV000889704]|not specified [RCV000248798] Chr9:12698664 [GRCh38]
Chr9:12698664 [GRCh37]
Chr9:9p23
benign|likely benign|uncertain significance
NM_000550.3(TYRP1):c.1409-18dup duplication not provided [RCV001515760]|not specified [RCV000241563] Chr9:12708958..12708959 [GRCh38]
Chr9:12708958..12708959 [GRCh37]
Chr9:9p23
benign
NM_000550.3(TYRP1):c.259C>A (p.Arg87=) single nucleotide variant Oculocutaneous albinism type 3 [RCV000339735]|not provided [RCV001512761]|not specified [RCV000241851] Chr9:12694255 [GRCh38]
Chr9:12694255 [GRCh37]
Chr9:9p23
benign|likely benign
NM_000550.3(TYRP1):c.627T>A (p.Gly209=) single nucleotide variant not provided [RCV000934663]|not specified [RCV000246836] Chr9:12695756 [GRCh38]
Chr9:12695756 [GRCh37]
Chr9:9p23
benign|likely benign
NM_000550.3(TYRP1):c.708+19A>G single nucleotide variant not provided [RCV001513584]|not specified [RCV000251800] Chr9:12695856 [GRCh38]
Chr9:12695856 [GRCh37]
Chr9:9p23
benign|likely benign
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
NM_000550.3(TYRP1):c.*123C>A single nucleotide variant Oculocutaneous albinism type 3 [RCV000280833] Chr9:12709305 [GRCh38]
Chr9:12709305 [GRCh37]
Chr9:9p23
benign
NM_000550.3(TYRP1):c.1279T>C (p.Leu427=) single nucleotide variant Oculocutaneous albinism type 3 [RCV000260372]|not provided [RCV000927702] Chr9:12708014 [GRCh38]
Chr9:12708014 [GRCh37]
Chr9:9p23
likely benign|uncertain significance
NM_000550.3(TYRP1):c.1029C>T (p.Asp343=) single nucleotide variant Oculocutaneous albinism type 3 [RCV000273508]|not provided [RCV000911348]|not specified [RCV000501167] Chr9:12702386 [GRCh38]
Chr9:12702386 [GRCh37]
Chr9:9p23
likely benign|uncertain significance
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys) single nucleotide variant not provided [RCV000313512] Chr9:12695544 [GRCh38]
Chr9:12695544 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.-15C>G single nucleotide variant Oculocutaneous albinism type 3 [RCV000278757] Chr9:12693982 [GRCh38]
Chr9:12693982 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*853A>C single nucleotide variant Oculocutaneous albinism type 3 [RCV000398860] Chr9:12710035 [GRCh38]
Chr9:12710035 [GRCh37]
Chr9:9p23
benign
NM_000550.3(TYRP1):c.*568T>C single nucleotide variant Oculocutaneous albinism type 3 [RCV000399221] Chr9:12709750 [GRCh38]
Chr9:12709750 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.1560A>G (p.Gln520=) single nucleotide variant Oculocutaneous albinism type 3 [RCV000315641] Chr9:12709128 [GRCh38]
Chr9:12709128 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.-167G>A single nucleotide variant Oculocutaneous albinism type 3 [RCV000331853] Chr9:12693397 [GRCh38]
Chr9:12693397 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.527C>T (p.Thr176Met) single nucleotide variant Oculocutaneous albinism type 3 [RCV000364048] Chr9:12695656 [GRCh38]
Chr9:12695656 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.308G>A (p.Gly103Asp) single nucleotide variant Oculocutaneous albinism type 3 [RCV000304742] Chr9:12694304 [GRCh38]
Chr9:12694304 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*509C>A single nucleotide variant Oculocutaneous albinism type 3 [RCV000347799] Chr9:12709691 [GRCh38]
Chr9:12709691 [GRCh37]
Chr9:9p23
likely benign|uncertain significance
NM_000550.3(TYRP1):c.*591G>T single nucleotide variant Oculocutaneous albinism type 3 [RCV000367398] Chr9:12709773 [GRCh38]
Chr9:12709773 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.-161G>T single nucleotide variant Oculocutaneous albinism type 3 [RCV000386183] Chr9:12693403 [GRCh38]
Chr9:12693403 [GRCh37]
Chr9:9p23
benign|likely benign
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr) single nucleotide variant Oculocutaneous albinism type 3 [RCV000284548] Chr9:12694204 [GRCh38]
Chr9:12694204 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.917C>G (p.Thr306Ser) single nucleotide variant Oculocutaneous albinism type 3 [RCV000368307] Chr9:12702274 [GRCh38]
Chr9:12702274 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.-70C>T single nucleotide variant Oculocutaneous albinism type 3 [RCV000351533] Chr9:12693927 [GRCh38]
Chr9:12693927 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.1082-8G>A single nucleotide variant Oculocutaneous albinism type 3 [RCV000369178]|not provided [RCV000959044] Chr9:12704518 [GRCh38]
Chr9:12704518 [GRCh37]
Chr9:9p23
benign|likely benign|uncertain significance
NM_000550.3(TYRP1):c.-119G>T single nucleotide variant Oculocutaneous albinism type 3 [RCV000296582] Chr9:12693445 [GRCh38]
Chr9:12693445 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*259T>C single nucleotide variant Oculocutaneous albinism type 3 [RCV000321984] Chr9:12709441 [GRCh38]
Chr9:12709441 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*319_*320dup duplication Oculocutaneous albinism [RCV000286585] Chr9:12709499..12709500 [GRCh38]
Chr9:12709499..12709500 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.-6A>G single nucleotide variant Oculocutaneous albinism type 3 [RCV000338446] Chr9:12693991 [GRCh38]
Chr9:12693991 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*955dup duplication Oculocutaneous albinism [RCV000354898] Chr9:12710131..12710132 [GRCh38]
Chr9:12710131..12710132 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.-69G>T single nucleotide variant Oculocutaneous albinism type 3 [RCV000373580] Chr9:12693928 [GRCh38]
Chr9:12693928 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*468_*471ATTA[1] microsatellite Oculocutaneous albinism [RCV000287904] Chr9:12709649..12709652 [GRCh38]
Chr9:12709649..12709652 [GRCh37]
Chr9:9p23
benign
NM_000550.3(TYRP1):c.*404A>T single nucleotide variant Oculocutaneous albinism type 3 [RCV000341603] Chr9:12709586 [GRCh38]
Chr9:12709586 [GRCh37]
Chr9:9p23
benign
NM_000550.3(TYRP1):c.*59A>C single nucleotide variant Oculocutaneous albinism type 3 [RCV000375386] Chr9:12709241 [GRCh38]
Chr9:12709241 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*458A>G single nucleotide variant Oculocutaneous albinism type 3 [RCV000394515] Chr9:12709640 [GRCh38]
Chr9:12709640 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*573T>G single nucleotide variant Oculocutaneous albinism type 3 [RCV000312645] Chr9:12709755 [GRCh38]
Chr9:12709755 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*294_*297AAGT[1] microsatellite Oculocutaneous albinism [RCV000376558] Chr9:12709475..12709478 [GRCh38]
Chr9:12709475..12709478 [GRCh37]
Chr9:9p23
benign
NM_000550.3(TYRP1):c.70G>A (p.Ala24Thr) single nucleotide variant Oculocutaneous albinism type 3 [RCV000395519]|not provided [RCV000968469] Chr9:12694066 [GRCh38]
Chr9:12694066 [GRCh37]
Chr9:9p23
likely benign|uncertain significance
NM_000550.3(TYRP1):c.*908T>C single nucleotide variant Oculocutaneous albinism type 3 [RCV000313973] Chr9:12710090 [GRCh38]
Chr9:12710090 [GRCh37]
Chr9:9p23
benign
NM_000550.3(TYRP1):c.385G>C (p.Val129Leu) single nucleotide variant Oculocutaneous albinism type 3 [RCV001169780] Chr9:12694381 [GRCh38]
Chr9:12694381 [GRCh37]
Chr9:9p23
uncertain significance
NM_000371.3(TTR):c.372C>G (p.Arg124=) single nucleotide variant Oculocutaneous albinism type 3 [RCV001169782]|not provided [RCV001700983] Chr9:12695565 [GRCh38]
Chr9:12695565 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.457C>T (p.Arg153Cys) single nucleotide variant Oculocutaneous albinism type 3 [RCV001169783]|not provided [RCV001305373] Chr9:12695586 [GRCh38]
Chr9:12695586 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.640T>C (p.Ser214Pro) single nucleotide variant Oculocutaneous albinism type 3 [RCV001169784] Chr9:12695769 [GRCh38]
Chr9:12695769 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.670C>T (p.His224Tyr) single nucleotide variant Ocular albinism [RCV000415277] Chr9:12695799 [GRCh38]
Chr9:12695799 [GRCh37]
Chr9:9p23
likely pathogenic
NM_000550.3(TYRP1):c.1513C>T (p.Arg505Cys) single nucleotide variant not provided [RCV000731516] Chr9:12709081 [GRCh38]
Chr9:12709081 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.1133A>G (p.Asn378Ser) single nucleotide variant Ocular albinism [RCV000414933] Chr9:12704577 [GRCh38]
Chr9:12704577 [GRCh37]
Chr9:9p23
likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p23(chr9:12350523-13444932)x3 copy number gain See cases [RCV000454338] Chr9:12350523..13444932 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p23(chr9:11724546-13480618)x3 copy number gain See cases [RCV000446407] Chr9:11724546..13480618 [GRCh37]
Chr9:9p23
likely benign
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
NM_000550.3(TYRP1):c.1263T>C (p.Asp421=) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167386]|not provided [RCV001516384]|not specified [RCV000431325] Chr9:12707998 [GRCh38]
Chr9:12707998 [GRCh37]
Chr9:9p23
benign|likely benign|uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p23(chr9:12704480-13649436)x3 copy number gain See cases [RCV000448651] Chr9:12704480..13649436 [GRCh37]
Chr9:9p23
likely benign
GRCh37/hg19 9p23(chr9:12643510-12794563)x1 copy number loss See cases [RCV000448944] Chr9:12643510..12794563 [GRCh37]
Chr9:9p23
likely benign
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NM_000550.3(TYRP1):c.1226C>T (p.Ala409Val) single nucleotide variant not provided [RCV000485572] Chr9:12704670 [GRCh38]
Chr9:12704670 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
NM_000550.3(TYRP1):c.1261+1G>A single nucleotide variant Albinism [RCV000504849]|Oculocutaneous albinism type 3 [RCV000500963]|not provided [RCV000596345] Chr9:12704706 [GRCh38]
Chr9:12704706 [GRCh37]
Chr9:9p23
pathogenic|likely pathogenic
NM_000550.3(TYRP1):c.1354A>G (p.Met452Val) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167991]|not specified [RCV000503241] Chr9:12708089 [GRCh38]
Chr9:12708089 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.977G>A (p.Arg326His) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167382]|not provided [RCV000956703]|not specified [RCV000504221] Chr9:12702334 [GRCh38]
Chr9:12702334 [GRCh37]
Chr9:9p23
benign|likely benign|conflicting interpretations of pathogenicity
NM_000550.3(TYRP1):c.1584A>G (p.Lys528=) single nucleotide variant not specified [RCV000499528] Chr9:12709152 [GRCh38]
Chr9:12709152 [GRCh37]
Chr9:9p23
likely benign
GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1 copy number loss See cases [RCV000510332] Chr9:4581369..14848338 [GRCh37]
Chr9:9p24.2-22.3
pathogenic
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 copy number gain See cases [RCV000510425] Chr9:5900425..30008330 [GRCh37]
Chr9:9p24.1-21.1
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 copy number loss See cases [RCV000511432] Chr9:203861..13486759 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626433] Chr9:10320113..26205565 [GRCh37]
Chr9:9p23-21.2
drug response
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3
pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p23(chr9:12113524-12739192)x3 copy number gain not provided [RCV000683135] Chr9:12113524..12739192 [GRCh37]
Chr9:9p23
likely benign
GRCh37/hg19 9p23(chr9:9938034-13049945)x3 copy number gain not provided [RCV000683158] Chr9:9938034..13049945 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000550.3(TYRP1):c.256G>T (p.Asp86Tyr) single nucleotide variant Nonsyndromic Oculocutaneous Albinism [RCV000755095] Chr9:12694252 [GRCh38]
Chr9:12694252 [GRCh37]
Chr9:9p23
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p23(chr9:12628213-12861280)x1 copy number loss not provided [RCV000748228] Chr9:12628213..12861280 [GRCh37]
Chr9:9p23
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 copy number loss not provided [RCV000748061] Chr9:46587..13708607 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3
pathogenic
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001585405] Chr9:12702394 [GRCh38]
Chr9:12702394 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.1534C>T (p.Gln512Ter) single nucleotide variant Nonsyndromic Oculocutaneous Albinism [RCV000755097] Chr9:12709102 [GRCh38]
Chr9:12709102 [GRCh37]
Chr9:9p23
likely pathogenic
NM_000550.3(TYRP1):c.481A>T (p.Ile161Phe) single nucleotide variant not provided [RCV000762553] Chr9:12695610 [GRCh38]
Chr9:12695610 [GRCh37]
Chr9:9p23
likely pathogenic
NM_000550.3(TYRP1):c.1554G>C (p.Gln518His) single nucleotide variant not provided [RCV000762554] Chr9:12709122 [GRCh38]
Chr9:12709122 [GRCh37]
Chr9:9p23
conflicting interpretations of pathogenicity|uncertain significance
NM_000550.3(TYRP1):c.*518A>G single nucleotide variant Oculocutaneous albinism type 3 [RCV001165879] Chr9:12709700 [GRCh38]
Chr9:12709700 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.1408+10G>A single nucleotide variant not provided [RCV000929326] Chr9:12708153 [GRCh38]
Chr9:12708153 [GRCh37]
Chr9:9p23
likely benign
NM_000550.3(TYRP1):c.1278A>G (p.Pro426=) single nucleotide variant not provided [RCV000926009] Chr9:12708013 [GRCh38]
Chr9:12708013 [GRCh37]
Chr9:9p23
benign
NM_000550.3(TYRP1):c.1117G>A (p.Val373Ile) single nucleotide variant not provided [RCV000969232] Chr9:12704561 [GRCh38]
Chr9:12704561 [GRCh37]
Chr9:9p23
benign
GRCh37/hg19 9p23(chr9:12687248-12761919)x1 copy number loss not provided [RCV001006210] Chr9:12687248..12761919 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_000550.3(TYRP1):c.914-4G>T single nucleotide variant Oculocutaneous albinism type 3 [RCV001165810]|not provided [RCV000906212] Chr9:12702267 [GRCh38]
Chr9:12702267 [GRCh37]
Chr9:9p23
likely benign|uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
NM_000550.3(TYRP1):c.1082-5T>A single nucleotide variant Oculocutaneous albinism type 3 [RCV001167383] Chr9:12704521 [GRCh38]
Chr9:12704521 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.933T>C (p.Ile311=) single nucleotide variant Oculocutaneous albinism type 3 [RCV001165812] Chr9:12702290 [GRCh38]
Chr9:12702290 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*727C>A single nucleotide variant Oculocutaneous albinism type 3 [RCV001165880] Chr9:12709909 [GRCh38]
Chr9:12709909 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.114T>A (p.Ser38Arg) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167917] Chr9:12694110 [GRCh38]
Chr9:12694110 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.148G>A (p.Gly50Arg) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167919] Chr9:12694144 [GRCh38]
Chr9:12694144 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 copy number loss not provided [RCV001006166] Chr9:203861..14080419 [GRCh37]
Chr9:9p24.3-23
pathogenic
NM_000550.3(TYRP1):c.926G>A (p.Gly309Glu) single nucleotide variant Oculocutaneous albinism type 3 [RCV001165811] Chr9:12702283 [GRCh38]
Chr9:12702283 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p23(chr9:12552814-12700251)x1 copy number loss not provided [RCV000846009] Chr9:12552814..12700251 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.1510A>G (p.Arg504Gly) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167997] Chr9:12709078 [GRCh38]
Chr9:12709078 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*229C>G single nucleotide variant Oculocutaneous albinism type 3 [RCV001168773] Chr9:12709411 [GRCh38]
Chr9:12709411 [GRCh37]
Chr9:9p23
likely benign
NM_000550.3(TYRP1):c.-69G>A single nucleotide variant Oculocutaneous albinism type 3 [RCV001167313] Chr9:12693928 [GRCh38]
Chr9:12693928 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.643C>G (p.His215Asp) single nucleotide variant not provided [RCV001090489] Chr9:12695772 [GRCh38]
Chr9:12695772 [GRCh37]
Chr9:9p23
pathogenic
NM_000550.3(TYRP1):c.1409G>A (p.Ser470Asn) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167992] Chr9:12708977 [GRCh38]
Chr9:12708977 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
NM_000550.3(TYRP1):c.*775G>A single nucleotide variant Oculocutaneous albinism type 3 [RCV001167452] Chr9:12709957 [GRCh38]
Chr9:12709957 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*944A>C single nucleotide variant Oculocutaneous albinism type 3 [RCV001167454] Chr9:12710126 [GRCh38]
Chr9:12710126 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.904C>G (p.Leu302Val) single nucleotide variant Oculocutaneous albinism type 3 [RCV001165809] Chr9:12698646 [GRCh38]
Chr9:12698646 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p23-22.3(chr9:12392499-14446948)x1 copy number loss not provided [RCV000846797] Chr9:12392499..14446948 [GRCh37]
Chr9:9p23-22.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_000550.3(TYRP1):c.-111T>C single nucleotide variant Oculocutaneous albinism type 3 [RCV001167312] Chr9:12693453 [GRCh38]
Chr9:12693453 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p23(chr9:10906560-12914471)x3 copy number gain not provided [RCV001006209] Chr9:10906560..12914471 [GRCh37]
Chr9:9p23
uncertain significance
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001581580] Chr9:12694190 [GRCh38]
Chr9:12694190 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.21C>G (p.Leu7=) single nucleotide variant not provided [RCV000910056] Chr9:12694017 [GRCh38]
Chr9:12694017 [GRCh37]
Chr9:9p23
benign
NM_000550.3(TYRP1):c.672C>T (p.His224=) single nucleotide variant not provided [RCV000933290] Chr9:12695801 [GRCh38]
Chr9:12695801 [GRCh37]
Chr9:9p23
likely benign
NM_000550.3(TYRP1):c.306C>T (p.Asn102=) single nucleotide variant not provided [RCV000897961] Chr9:12694302 [GRCh38]
Chr9:12694302 [GRCh37]
Chr9:9p23
benign
NM_000550.3(TYRP1):c.426C>A (p.Asn142Lys) single nucleotide variant Oculocutaneous albinism type 3 [RCV001169781] Chr9:12695555 [GRCh38]
Chr9:12695555 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.689G>A (p.Arg230His) single nucleotide variant Oculocutaneous albinism type 3 [RCV001169785] Chr9:12695818 [GRCh38]
Chr9:12695818 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.1097C>T (p.Thr366Met) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167384] Chr9:12704541 [GRCh38]
Chr9:12704541 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.98T>C (p.Val33Ala) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167916]|not provided [RCV000911206] Chr9:12694094 [GRCh38]
Chr9:12694094 [GRCh37]
Chr9:9p23
benign
GRCh37/hg19 9p23(chr9:12460256-13708607)x3 copy number gain See cases [RCV001194522] Chr9:12460256..13708607 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NM_000550.3(TYRP1):c.67C>T (p.Arg23Trp) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167314]|not provided [RCV001409927] Chr9:12694063 [GRCh38]
Chr9:12694063 [GRCh37]
Chr9:9p23
likely benign
NM_000550.3(TYRP1):c.1505G>A (p.Arg502His) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167996] Chr9:12709073 [GRCh38]
Chr9:12709073 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*195C>T single nucleotide variant Oculocutaneous albinism type 3 [RCV001168772] Chr9:12709377 [GRCh38]
Chr9:12709377 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*65T>A single nucleotide variant Oculocutaneous albinism type 3 [RCV001168770] Chr9:12709247 [GRCh38]
Chr9:12709247 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23
pathogenic
NM_000550.3(TYRP1):c.138C>T (p.Ser46=) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167918] Chr9:12694134 [GRCh38]
Chr9:12694134 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.1421G>A (p.Ser474Asn) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167994] Chr9:12708989 [GRCh38]
Chr9:12708989 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*98T>A single nucleotide variant Oculocutaneous albinism type 3 [RCV001168771] Chr9:12709280 [GRCh38]
Chr9:12709280 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.1172C>T (p.Thr391Ile) single nucleotide variant Oculocutaneous albinism type 3 [RCV001167385] Chr9:12704616 [GRCh38]
Chr9:12704616 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*934T>G single nucleotide variant Oculocutaneous albinism type 3 [RCV001167453] Chr9:12710116 [GRCh38]
Chr9:12710116 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p23(chr9:11704534-12801148)x3 copy number gain not provided [RCV001260073] Chr9:11704534..12801148 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
NM_000550.3(TYRP1):c.1392T>A (p.Tyr464Ter) single nucleotide variant Oculocutaneous albinism type 3 [RCV001329372] Chr9:12708127 [GRCh38]
Chr9:12708127 [GRCh37]
Chr9:9p23
pathogenic
NC_000009.11:g.(?_12693997)_(12702458_?)dup duplication not provided [RCV001350981] Chr9:12693997..12702458 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter) single nucleotide variant Oculocutaneous albinism type 3 [RCV001292943] Chr9:12694347 [GRCh38]
Chr9:12694347 [GRCh37]
Chr9:9p23
pathogenic
NM_000550.3(TYRP1):c.1388C>A (p.Thr463Asn) single nucleotide variant not provided [RCV001363104] Chr9:12708123 [GRCh38]
Chr9:12708123 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
NM_000550.3(TYRP1):c.164G>A (p.Arg55His) single nucleotide variant not provided [RCV001349417] Chr9:12694160 [GRCh38]
Chr9:12694160 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.136T>A (p.Ser46Thr) single nucleotide variant not provided [RCV001373398] Chr9:12694132 [GRCh38]
Chr9:12694132 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.*1_*4dup (p.Ter538=) duplication not provided [RCV001325340] Chr9:12709180..12709181 [GRCh38]
Chr9:12709180..12709181 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.951_952delinsTC (p.Asn318His) indel not provided [RCV001342165] Chr9:12702308..12702309 [GRCh38]
Chr9:12702308..12702309 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.923A>G (p.Asp308Gly) single nucleotide variant not provided [RCV001369781] Chr9:12702280 [GRCh38]
Chr9:12702280 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.565G>C (p.Val189Leu) single nucleotide variant not provided [RCV001367238] Chr9:12695694 [GRCh38]
Chr9:12695694 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.611G>A (p.Gly204Glu) single nucleotide variant not provided [RCV001354812] Chr9:12695740 [GRCh38]
Chr9:12695740 [GRCh37]
Chr9:9p23
uncertain significance
NM_000550.3(TYRP1):c.140_141del (p.Pro47fs) deletion not provided [RCV001386904] Chr9:12694136..12694137 [GRCh38]
Chr9:12694136..12694137 [GRCh37]
Chr9:9p23
pathogenic
NM_000550.3(TYRP1):c.913+19C>T single nucleotide variant not provided [RCV001432662] Chr9:12698674 [GRCh38]
Chr9:12698674 [GRCh37]
Chr9:9p23
likely benign
NM_000550.3(TYRP1):c.162C>T (p.Asp54=) single nucleotide variant not provided [RCV001407244] Chr9:12694158 [GRCh38]
Chr9:12694158 [GRCh37]
Chr9:9p23
likely benign
NM_000550.3(TYRP1):c.651A>T (p.Gly217=) single nucleotide variant not provided [RCV001409204] Chr9:12695780 [GRCh38]
Chr9:12695780 [GRCh37]
Chr9:9p23
likely benign
NM_000550.3(TYRP1):c.1422T>C (p.Ser474=) single nucleotide variant not provided [RCV001515741] Chr9:12708990 [GRCh38]
Chr9:12708990 [GRCh37]
Chr9:9p23
benign
NM_000550.3(TYRP1):c.1579G>C (p.Glu527Gln) single nucleotide variant not provided [RCV001485251] Chr9:12709147 [GRCh38]
Chr9:12709147 [GRCh37]
Chr9:9p23
likely benign
NM_000550.3(TYRP1):c.82del (p.Arg28fs) deletion not provided [RCV001381641] Chr9:12694077 [GRCh38]
Chr9:12694077 [GRCh37]
Chr9:9p23
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12450 AgrOrtholog
COSMIC TYRP1 COSMIC
Ensembl Genes ENSG00000107165 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000370528 UniProtKB/TrEMBL
  ENSP00000373570 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000419006 UniProtKB/TrEMBL
Ensembl Transcript ENST00000381136 UniProtKB/TrEMBL
  ENST00000388918 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000473763 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1280.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000107165 GTEx
HGNC ID HGNC:12450 ENTREZGENE
Human Proteome Map TYRP1 Human Proteome Map
InterPro Tyrosinase_Cu-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Unchr_di-copper_centre UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7306 UniProtKB/Swiss-Prot
NCBI Gene 7306 ENTREZGENE
OMIM 115501 OMIM
  203290 OMIM
  612271 OMIM
Pfam Tyrosinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37101 PharmGKB
PRINTS TYROSINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TYROSINASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYROSINASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48056 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JZ52_HUMAN UniProtKB/TrEMBL
  E7EQI3_HUMAN UniProtKB/TrEMBL
  P17643 ENTREZGENE
  Q6LES1_HUMAN UniProtKB/TrEMBL
  TYRP1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary P78468 UniProtKB/Swiss-Prot
  P78469 UniProtKB/Swiss-Prot
  Q13721 UniProtKB/Swiss-Prot
  Q15679 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-26 TYRP1  tyrosinase related protein 1  TYRP1  tyrosinase-related protein 1  Symbol and/or name change 5135510 APPROVED