TAT (tyrosine aminotransferase) - Rat Genome Database
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Gene: TAT (tyrosine aminotransferase) Homo sapiens
Analyze
Symbol: TAT
Name: tyrosine aminotransferase
RGD ID: 736963
HGNC Page HGNC
Description: Exhibits L-tyrosine:2-oxoglutarate aminotransferase activity and identical protein binding activity. Involved in 2-oxoglutarate metabolic process; glutamate metabolic process; and tyrosine catabolic process. Predicted to localize to cytosol. Implicated in tyrosinemia and tyrosinemia type II.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: L-tyrosine:2-oxoglutarate aminotransferase; testis tissue sperm-binding protein Li 34a; tyrosine aminotransferase, cytosolic
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 Ensembl1671,565,660 - 71,577,092 (-)EnsemblGRCh38hg38GRCh38
GRCh381671,565,660 - 71,577,092 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371671,600,754 - 71,610,998 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361670,158,255 - 70,168,496 (-)NCBINCBI36hg18NCBI36
Build 341670,158,254 - 70,168,496NCBI
Celera1655,916,606 - 55,926,850 (-)NCBI
Cytogenetic Map16q22.2NCBI
HuRef1657,368,735 - 57,378,980 (-)NCBIHuRef
CHM1_11673,013,576 - 73,023,820 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
microcephaly  (IAGP)
tyrosinemia  (EXP,IAGP)
tyrosinemia type II  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-colchicine  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
11-deoxycorticosterone  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-nitrofluorene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-methyl-4'-dimethylaminoazobenzene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
5-azacytidine  (EXP)
5-fluorouracil  (ISO)
acephate  (ISO)
acetic acid  (ISO)
actinomycin D  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
aldosterone  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
atropine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beryllium sulfate  (ISO)
bisphenol A  (EXP,ISO)
bosentan  (EXP)
bromobenzene  (ISO)
bromochloroacetic acid  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
Calcimycin  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
corticosterone  (ISO)
cortisol  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
cypermethrin  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
diazepam  (ISO)
dichlorvos  (ISO)
diethylstilbestrol  (ISO)
disulfiram  (ISO)
ethanol  (ISO)
folic acid  (ISO)
furan  (ISO)
ketoconazole  (EXP)
lead diacetate  (ISO)
leflunomide  (EXP)
mercury atom  (ISO)
mercury(0)  (ISO)
methapyrilene  (ISO)
methoxychlor  (ISO)
methylprednisolone aceponate  (EXP,ISO)
miconazole  (EXP,ISO)
mifepristone  (EXP,ISO)
mirex  (ISO)
mometasone furoate  (EXP,ISO)
monosodium L-glutamate  (ISO)
N,N-diethyl-m-toluamide  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nimesulide  (ISO)
O-methyleugenol  (EXP)
ortho-Aminoazotoluene  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
parathion  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
prednisolone  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sphingosine  (ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
titanium dioxide  (ISO)
tolylfluanid  (ISO)
Triptolide  (ISO)
troglitazone  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1356171   PMID:1973834   PMID:2870018   PMID:2891604   PMID:4389443   PMID:6124417   PMID:7908801   PMID:7999802   PMID:9544843   PMID:12417987   PMID:12477932   PMID:12588988  
PMID:15027097   PMID:16574453   PMID:16892178   PMID:16917729   PMID:18721127   PMID:18945316   PMID:20209601   PMID:21636300   PMID:22286219   PMID:22916037   PMID:23954227   PMID:24722188  
PMID:25416956   PMID:25502805   PMID:25910212   PMID:26186194   PMID:27285949   PMID:28255985   PMID:28514442   PMID:31515488   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
TAT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1671,565,660 - 71,577,092 (-)EnsemblGRCh38hg38GRCh38
GRCh381671,565,660 - 71,577,092 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371671,600,754 - 71,610,998 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361670,158,255 - 70,168,496 (-)NCBINCBI36hg18NCBI36
Build 341670,158,254 - 70,168,496NCBI
Celera1655,916,606 - 55,926,850 (-)NCBI
Cytogenetic Map16q22.2NCBI
HuRef1657,368,735 - 57,378,980 (-)NCBIHuRef
CHM1_11673,013,576 - 73,023,820 (-)NCBICHM1_1
Tat
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398110,712,710 - 110,726,436 (+)NCBIGRCm39mm39
GRCm388109,986,078 - 109,999,804 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8109,990,437 - 109,999,803 (+)EnsemblGRCm38mm10GRCm38
MGSCv378112,514,336 - 112,523,704 (+)NCBIGRCm37mm9NCBIm37
MGSCv368112,879,586 - 112,888,930 (+)NCBImm8
Celera8114,212,364 - 114,221,732 (+)NCBICelera
Cytogenetic Map8D3NCBI
cM Map857.38NCBI
Tat
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01941,675,639 - 41,686,195 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1941,675,355 - 41,686,229 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01952,499,259 - 52,509,759 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41939,854,163 - 39,865,060 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11939,859,002 - 39,870,255 (+)NCBI
Celera1937,350,682 - 37,361,246 (+)NCBICelera
Cytogenetic Map19q12NCBI
RH 3.4 Map19448.1RGD
Tat
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554844,276,953 - 4,287,627 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554844,278,083 - 4,287,535 (-)NCBIChiLan1.0ChiLan1.0
TAT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11671,402,560 - 71,414,013 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1671,404,399 - 71,413,886 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01653,434,028 - 53,443,624 (+)NCBIMhudiblu_PPA_v0panPan3
TAT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl577,366,138 - 77,378,419 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1577,365,589 - 77,378,474 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Tat
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493647522,190,282 - 22,199,398 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TAT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl614,570,587 - 14,583,177 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1614,571,311 - 14,583,203 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2614,064,566 - 14,076,459 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TAT
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1554,695,342 - 54,749,291 (-)NCBI
ChlSab1.1 Ensembl554,693,458 - 54,705,082 (-)Ensembl
Tat
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474613,793,593 - 13,803,227 (-)NCBI

Position Markers
SHGC-11957  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371671,601,818 - 71,602,035UniSTSGRCh37
Build 361670,159,319 - 70,159,536RGDNCBI36
Celera1655,917,670 - 55,917,887RGD
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q22.1UniSTS
HuRef1657,369,799 - 57,370,016UniSTS
Stanford-G3 RH Map162742.0UniSTS
GeneMap99-G3 RH Map163186.0UniSTS
SHGC-80760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371671,605,826 - 71,606,129UniSTSGRCh37
Build 361670,163,327 - 70,163,630RGDNCBI36
Celera1655,921,678 - 55,921,981RGD
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q22.1UniSTS
HuRef1657,373,807 - 57,374,110UniSTS
TNG Radiation Hybrid Map1630986.0UniSTS
TAT__5216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371671,600,672 - 71,601,435UniSTSGRCh37
Build 361670,158,173 - 70,158,936RGDNCBI36
Celera1655,916,524 - 55,917,287RGD
HuRef1657,368,653 - 57,369,416UniSTS
G10523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371671,600,999 - 71,601,397UniSTSGRCh37
Build 361670,158,500 - 70,158,898RGDNCBI36
Celera1655,916,851 - 55,917,249RGD
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q22.1UniSTS
HuRef1657,368,980 - 57,369,378UniSTS
D11S3316  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map7p15-p14UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q12-q13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map14q31UniSTS
GDB:210937  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
MARC_7235-7236:996687672:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371671,602,070 - 71,602,670UniSTSGRCh37
Celera1655,917,922 - 55,918,522UniSTS
HuRef1657,370,051 - 57,370,651UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1242
Count of miRNA genes:784
Interacting mature miRNAs:876
Transcripts:ENST00000355962, ENST00000564007, ENST00000566010, ENST00000566094
Prediction methods:Miranda, Rnahybrid
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 adipose tissue appendage entire extraembryonic component
High 55 55 55
Medium 7 351 351 6 351 4 1 4
Low 217 100 67 38 256 39 113 16 47 7 417 105 74 22
Below cutoff 1717 1969 1205 169 1260 18 3358 1407 3439 306 855 1416 162 1030 2113 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000355962   ⟹   ENSP00000348234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1671,565,660 - 71,577,092 (-)Ensembl
RefSeq Acc Id: ENST00000564007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1671,567,989 - 71,569,934 (-)Ensembl
RefSeq Acc Id: ENST00000566010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1671,575,403 - 71,577,092 (-)Ensembl
RefSeq Acc Id: ENST00000566094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1671,575,078 - 71,577,092 (-)Ensembl
RefSeq Acc Id: NM_000353   ⟹   NP_000344
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381671,565,660 - 71,577,092 (-)NCBI
GRCh371671,600,754 - 71,610,998 (-)ENTREZGENE
Build 361670,158,255 - 70,168,496 (-)NCBI Archive
HuRef1657,368,735 - 57,378,980 (-)ENTREZGENE
CHM1_11673,013,576 - 73,023,820 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000344   ⟸   NM_000353
- UniProtKB: P17735 (UniProtKB/Swiss-Prot),   A0A140VKB7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000348234   ⟸   ENST00000355962
Protein Domains
Aminotran_1_2   TAT_ubiq

Promoters
RGD ID:7232779
Promoter ID:EPDNEW_H22135
Type:multiple initiation site
Name:TAT_1
Description:tyrosine aminotransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381671,577,092 - 71,577,152EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000353.3(TAT):c.1068G>A (p.Ala356=) single nucleotide variant Tyrosinemia type II [RCV000528612] Chr16:71569911 [GRCh38]
Chr16:71603814 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.1085G>T (p.Gly362Val) single nucleotide variant Tyrosinemia type II [RCV000000432] Chr16:71569894 [GRCh38]
Chr16:71603797 [GRCh37]
Chr16:16q22.2
pathogenic
NM_000353.3(TAT):c.236-5A>G single nucleotide variant Tyrosinemia type II [RCV000000433] Chr16:71576031 [GRCh38]
Chr16:71609934 [GRCh37]
Chr16:16q22.2
pathogenic
NM_000353.3(TAT):c.169C>T (p.Arg57Ter) single nucleotide variant Tyrosinemia type II [RCV000000429]|not provided [RCV000760433] Chr16:71576247 [GRCh38]
Chr16:71610150 [GRCh37]
Chr16:16q22.2
pathogenic|likely pathogenic
NM_000353.3(TAT):c.668C>G (p.Ser223Ter) single nucleotide variant Tyrosinemia type II [RCV000000430] Chr16:71572224 [GRCh38]
Chr16:71606127 [GRCh37]
Chr16:16q22.2
pathogenic
NM_000353.3(TAT):c.1249C>T (p.Arg417Ter) single nucleotide variant Tyrosinemia type II [RCV000000431] Chr16:71568260 [GRCh38]
Chr16:71602163 [GRCh37]
Chr16:16q22.2
pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1 copy number loss See cases [RCV000053356] Chr16:69918076..76723348 [GRCh38]
Chr16:69951979..76757245 [GRCh37]
Chr16:68509480..75314746 [NCBI36]
Chr16:16q22.1-23.1
pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1 copy number loss See cases [RCV000053337] Chr16:68698941..74353205 [GRCh38]
Chr16:68732844..74387103 [GRCh37]
Chr16:67290345..72944604 [NCBI36]
Chr16:16q22.1-23.1
pathogenic
GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3 copy number gain See cases [RCV000053867] Chr16:71279916..73246687 [GRCh38]
Chr16:71313819..73280586 [GRCh37]
Chr16:69871320..71838087 [NCBI36]
Chr16:16q22.2-22.3
uncertain significance
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 copy number loss See cases [RCV000133814] Chr16:70414573..84908120 [GRCh38]
Chr16:70448476..84941726 [GRCh37]
Chr16:69005977..83499227 [NCBI36]
Chr16:16q22.1-24.1
pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1
pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3 copy number gain See cases [RCV000142038] Chr16:69053457..83274681 [GRCh38]
Chr16:69087360..83308286 [GRCh37]
Chr16:67644861..81865787 [NCBI36]
Chr16:16q22.1-23.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q22.2(chr16:71103288-72092204)x1 copy number loss Ductal breast carcinoma [RCV000207278] Chr16:71103288..72092204 [GRCh37]
Chr16:16q22.2
uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
NM_000353.3(TAT):c.906_912+12del deletion Tyrosinemia type II [RCV000669658] Chr16:71570667..71570685 [GRCh38]
Chr16:71604570..71604588 [GRCh37]
Chr16:16q22.2
likely pathogenic
NM_000353.3(TAT):c.1047del (p.Asn349fs) deletion Tyrosinemia type II [RCV000669157] Chr16:71569932 [GRCh38]
Chr16:71603835 [GRCh37]
Chr16:16q22.2
likely pathogenic
NM_000353.3(TAT):c.1363T>C (p.Ter455Gln) single nucleotide variant Tyrosinemia type II [RCV000669460] Chr16:71568146 [GRCh38]
Chr16:71602049 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.309G>A (p.Ser103=) single nucleotide variant Tyrosinemia type II [RCV000273867]|not specified [RCV000247319] Chr16:71575953 [GRCh38]
Chr16:71609856 [GRCh37]
Chr16:16q22.2
benign|likely benign
NM_000353.3(TAT):c.133C>T (p.Pro45Ser) single nucleotide variant Tyrosinemia type II [RCV000973993] Chr16:71576283 [GRCh38]
Chr16:71610186 [GRCh37]
Chr16:16q22.2
benign|likely benign
NM_000353.3(TAT):c.1173G>A (p.Glu391=) single nucleotide variant Tyrosinemia type II [RCV000291311]|not specified [RCV000443159] Chr16:71568762 [GRCh38]
Chr16:71602665 [GRCh37]
Chr16:16q22.2
benign|likely benign
NM_000353.3(TAT):c.*813G>C single nucleotide variant Tyrosinemia type II [RCV000276626] Chr16:71567331 [GRCh38]
Chr16:71601234 [GRCh37]
Chr16:16q22.2
likely benign|uncertain significance
NM_000353.3(TAT):c.*581G>A single nucleotide variant Tyrosinemia type II [RCV000261381] Chr16:71567563 [GRCh38]
Chr16:71601466 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*1056G>C single nucleotide variant Tyrosinemia type II [RCV000365564] Chr16:71567088 [GRCh38]
Chr16:71600991 [GRCh37]
Chr16:16q22.2
likely benign|uncertain significance
NM_000353.3(TAT):c.*852G>A single nucleotide variant Tyrosinemia type II [RCV000368995] Chr16:71567292 [GRCh38]
Chr16:71601195 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.43C>T (p.Pro15Ser) single nucleotide variant Tyrosinemia type II [RCV000325241] Chr16:71576373 [GRCh38]
Chr16:71610276 [GRCh37]
Chr16:16q22.2
benign|likely benign
NM_000353.3(TAT):c.1090C>T (p.Arg364Trp) single nucleotide variant Tyrosinemia type II [RCV000348549] Chr16:71569889 [GRCh38]
Chr16:71603792 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*1066G>A single nucleotide variant Tyrosinemia type II [RCV000307992] Chr16:71567078 [GRCh38]
Chr16:71600981 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*1276T>A single nucleotide variant Tyrosinemia type II [RCV000400631] Chr16:71566868 [GRCh38]
Chr16:71600771 [GRCh37]
Chr16:16q22.2
benign|likely benign
NM_000353.3(TAT):c.*774G>A single nucleotide variant Tyrosinemia type II [RCV000333966] Chr16:71567370 [GRCh38]
Chr16:71601273 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.997C>A (p.Arg333Ser) single nucleotide variant Tyrosinemia type II [RCV000352156] Chr16:71570313 [GRCh38]
Chr16:71604216 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*81G>A single nucleotide variant Tyrosinemia type II [RCV000344926] Chr16:71568063 [GRCh38]
Chr16:71601966 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*682T>C single nucleotide variant Tyrosinemia type II [RCV000353887] Chr16:71567462 [GRCh38]
Chr16:71601365 [GRCh37]
Chr16:16q22.2
likely benign|uncertain significance
NM_000353.3(TAT):c.558C>T (p.Tyr186=) single nucleotide variant Tyrosinemia type II [RCV000368521] Chr16:71572539 [GRCh38]
Chr16:71606442 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.308C>T (p.Ser103Leu) single nucleotide variant Hypertyrosinemia [RCV000310294] Chr16:71575954 [GRCh38]
Chr16:71609857 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.-7G>A single nucleotide variant Tyrosinemia type II [RCV000379795] Chr16:71576422 [GRCh38]
Chr16:71610325 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*219G>A single nucleotide variant Tyrosinemia type II [RCV000379781] Chr16:71567925 [GRCh38]
Chr16:71601828 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*1055A>G single nucleotide variant Tyrosinemia type II [RCV000399810] Chr16:71567089 [GRCh38]
Chr16:71600992 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.1042-12C>T single nucleotide variant Tyrosinemia type II [RCV000313627] Chr16:71569949 [GRCh38]
Chr16:71603852 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*30C>A single nucleotide variant Tyrosinemia type II [RCV000383187] Chr16:71568114 [GRCh38]
Chr16:71602017 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.-83C>T single nucleotide variant Hypertyrosinemia [RCV000266686] Chr16:71577079 [GRCh38]
Chr16:71610982 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.614T>C (p.Ile205Thr) single nucleotide variant Microcephaly [RCV001252939]|Tyrosinemia type II [RCV000313859] Chr16:71572278 [GRCh38]
Chr16:71606181 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.1046A>G (p.Asn349Ser) single nucleotide variant Tyrosinemia type II [RCV001071179] Chr16:71569933 [GRCh38]
Chr16:71603836 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.707-3C>T single nucleotide variant Tyrosinemia type II [RCV000400433] Chr16:71571661 [GRCh38]
Chr16:71605564 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.2(TAT):c.-113G>T single nucleotide variant Hypertyrosinemia [RCV000311636] Chr16:71577109 [GRCh38]
Chr16:71611012 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.269A>G (p.Asp90Gly) single nucleotide variant Tyrosinemia type II [RCV000364850] Chr16:71575993 [GRCh38]
Chr16:71609896 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*393_*394CT[3] microsatellite Hypertyrosinemia [RCV000319211] Chr16:71567747..71567748 [GRCh38]
Chr16:71601650..71601651 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.*252C>G single nucleotide variant Tyrosinemia type II [RCV000283946] Chr16:71567892 [GRCh38]
Chr16:71601795 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*251T>A single nucleotide variant Tyrosinemia type II [RCV000322585] Chr16:71567893 [GRCh38]
Chr16:71601796 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.2(TAT):c.-104_-103delCT deletion Hypertyrosinemia [RCV000391818] Chr16:71577099..71577100 [GRCh38]
Chr16:71611002..71611003 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.*208G>A single nucleotide variant Tyrosinemia type II [RCV000287718] Chr16:71567936 [GRCh38]
Chr16:71601839 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*983A>G single nucleotide variant Tyrosinemia type II [RCV000311927] Chr16:71567161 [GRCh38]
Chr16:71601064 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*350_*352del deletion Hypertyrosinemia [RCV000376258] Chr16:71567792..71567794 [GRCh38]
Chr16:71601695..71601697 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*1276del deletion Hypertyrosinemia [RCV000343478] Chr16:71566868 [GRCh38]
Chr16:71600771 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*409G>A single nucleotide variant Tyrosinemia type II [RCV001120349] Chr16:71567735 [GRCh38]
Chr16:71601638 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*403G>T single nucleotide variant Tyrosinemia type II [RCV001120350] Chr16:71567741 [GRCh38]
Chr16:71601644 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.710C>T (p.Ala237Val) single nucleotide variant Tyrosinemia type II [RCV001120161] Chr16:71571655 [GRCh38]
Chr16:71605558 [GRCh37]
Chr16:16q22.2
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16q22.2(chr16:71218580-72049481)x1 copy number loss See cases [RCV000447076] Chr16:71218580..72049481 [GRCh37]
Chr16:16q22.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_000353.3(TAT):c.340G>A (p.Gly114Ser) single nucleotide variant Tyrosinemia type II [RCV000984227]|not provided [RCV000497415] Chr16:71575922 [GRCh38]
Chr16:71609825 [GRCh37]
Chr16:16q22.2
likely pathogenic|uncertain significance
NM_000353.3(TAT):c.452G>A (p.Cys151Tyr) single nucleotide variant not provided [RCV000498185] Chr16:71572645 [GRCh38]
Chr16:71606548 [GRCh37]
Chr16:16q22.2
likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss PARP Inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss PARP Inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
NM_000353.3(TAT):c.707-1G>A single nucleotide variant Tyrosinemia type II [RCV000664650] Chr16:71571659 [GRCh38]
Chr16:71605562 [GRCh37]
Chr16:16q22.2
likely pathogenic
NM_000353.3(TAT):c.1250G>A (p.Arg417Gln) single nucleotide variant Tyrosinemia type II [RCV000664686] Chr16:71568259 [GRCh38]
Chr16:71602162 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln) single nucleotide variant Tyrosinemia type II [RCV000665071] Chr16:71568211 [GRCh38]
Chr16:71602114 [GRCh37]
Chr16:16q22.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000353.3(TAT):c.355C>T (p.Arg119Trp) single nucleotide variant Tyrosinemia type II [RCV000665945] Chr16:71573592 [GRCh38]
Chr16:71607495 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.1A>G (p.Met1Val) single nucleotide variant Tyrosinemia type II [RCV000669173] Chr16:71576415 [GRCh38]
Chr16:71610318 [GRCh37]
Chr16:16q22.2
likely pathogenic
NM_000353.3(TAT):c.340+2T>C single nucleotide variant Tyrosinemia type II [RCV000665328] Chr16:71575920 [GRCh38]
Chr16:71609823 [GRCh37]
Chr16:16q22.2
likely pathogenic
NM_000353.3(TAT):c.1125+1G>T single nucleotide variant Tyrosinemia type II [RCV000667629] Chr16:71569853 [GRCh38]
Chr16:71603756 [GRCh37]
Chr16:16q22.2
likely pathogenic
NM_000353.3(TAT):c.226dup (p.Leu76fs) duplication Tyrosinemia type II [RCV000665660] Chr16:71576189..71576190 [GRCh38]
Chr16:71610092..71610093 [GRCh37]
Chr16:16q22.2
likely pathogenic
NM_000353.3(TAT):c.235+1G>A single nucleotide variant Tyrosinemia type II [RCV000667709] Chr16:71576180 [GRCh38]
Chr16:71610083 [GRCh37]
Chr16:16q22.2
likely pathogenic
NM_000353.3(TAT):c.1224G>A (p.Thr408=) single nucleotide variant Tyrosinemia type II [RCV000665820] Chr16:71568711 [GRCh38]
Chr16:71602614 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.-12-1G>A single nucleotide variant Tyrosinemia type II [RCV000666775] Chr16:71576428 [GRCh38]
Chr16:71610331 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp) single nucleotide variant Tyrosinemia type II [RCV000668575] Chr16:71568212 [GRCh38]
Chr16:71602115 [GRCh37]
Chr16:16q22.2
likely pathogenic
NM_000353.3(TAT):c.1041+2T>C single nucleotide variant Tyrosinemia type II [RCV000668624] Chr16:71570267 [GRCh38]
Chr16:71604170 [GRCh37]
Chr16:16q22.2
likely pathogenic
NM_000353.3(TAT):c.1223C>T (p.Thr408Met) single nucleotide variant Tyrosinemia type II [RCV000666556] Chr16:71568712 [GRCh38]
Chr16:71602615 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.177dup (p.Val60fs) duplication Tyrosinemia type II [RCV000673640] Chr16:71576238..71576239 [GRCh38]
Chr16:71610141..71610142 [GRCh37]
Chr16:16q22.2
pathogenic|likely pathogenic
NM_000353.3(TAT):c.568-2A>G single nucleotide variant Tyrosinemia type II [RCV000667793] Chr16:71572326 [GRCh38]
Chr16:71606229 [GRCh37]
Chr16:16q22.2
likely pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2
pathogenic
GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1 copy number loss not provided [RCV000683827] Chr16:70646969..72849701 [GRCh37]
Chr16:16q22.1-22.2
likely pathogenic
GRCh37/hg19 16q22.2-22.3(chr16:71561717-73724195)x1 copy number loss not provided [RCV000683830] Chr16:71561717..73724195 [GRCh37]
Chr16:16q22.2-22.3
likely pathogenic
NM_000353.3(TAT):c.863_874del (p.Arg288_Trp291del) deletion Tyrosinemia type II [RCV000722007] Chr16:71570717..71570728 [GRCh38]
Chr16:71604620..71604631 [GRCh37]
Chr16:16q22.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_000353.3(TAT):c.889C>T (p.Arg297Ter) single nucleotide variant not provided [RCV000760323] Chr16:71570702 [GRCh38]
Chr16:71604605 [GRCh37]
Chr16:16q22.2
pathogenic
NM_000353.3(TAT):c.93G>A (p.Pro31=) single nucleotide variant Tyrosinemia type II [RCV000885263] Chr16:71576323 [GRCh38]
Chr16:71610226 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.1242T>C (p.Asn414=) single nucleotide variant Tyrosinemia type II [RCV000967701] Chr16:71568267 [GRCh38]
Chr16:71602170 [GRCh37]
Chr16:16q22.2
benign
NM_000353.3(TAT):c.804C>T (p.Thr268=) single nucleotide variant Tyrosinemia type II [RCV000970646] Chr16:71570787 [GRCh38]
Chr16:71604690 [GRCh37]
Chr16:16q22.2
benign
NC_000016.10:g.(?_71569834)_(71576435_?)del deletion Tyrosinemia type II [RCV001033077] Chr16:71603737..71610338 [GRCh37]
Chr16:16q22.2
pathogenic
NM_000353.3(TAT):c.69C>T (p.Asn23=) single nucleotide variant Tyrosinemia type II [RCV000885001] Chr16:71576347 [GRCh38]
Chr16:71610250 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.687T>C (p.His229=) single nucleotide variant not provided [RCV000981946] Chr16:71572205 [GRCh38]
Chr16:71606108 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.411C>T (p.Asp137=) single nucleotide variant Tyrosinemia type II [RCV000944456] Chr16:71572686 [GRCh38]
Chr16:71606589 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.408+7C>G single nucleotide variant Tyrosinemia type II [RCV000978179] Chr16:71573532 [GRCh38]
Chr16:71607435 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.426T>C (p.Ser142=) single nucleotide variant Tyrosinemia type II [RCV000923115] Chr16:71572671 [GRCh38]
Chr16:71606574 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.1329T>C (p.His443=) single nucleotide variant Tyrosinemia type II [RCV000979279] Chr16:71568180 [GRCh38]
Chr16:71602083 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.528T>C (p.Ala176=) single nucleotide variant Tyrosinemia type II [RCV000980076] Chr16:71572569 [GRCh38]
Chr16:71606472 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.578C>A (p.Ser193Tyr) single nucleotide variant Tyrosinemia type II [RCV000824178] Chr16:71572314 [GRCh38]
Chr16:71606217 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.716G>A (p.Arg239Gln) single nucleotide variant Tyrosinemia type II [RCV000823406] Chr16:71571649 [GRCh38]
Chr16:71605552 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*170G>A single nucleotide variant Tyrosinemia type II [RCV001115457] Chr16:71567974 [GRCh38]
Chr16:71601877 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.464T>C (p.Leu155Ser) single nucleotide variant Tyrosinemia type II [RCV001120163] Chr16:71572633 [GRCh38]
Chr16:71606536 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*713T>G single nucleotide variant Tyrosinemia type II [RCV001120346] Chr16:71567431 [GRCh38]
Chr16:71601334 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*660G>C single nucleotide variant Tyrosinemia type II [RCV001120347] Chr16:71567484 [GRCh38]
Chr16:71601387 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*163A>C single nucleotide variant Tyrosinemia type II [RCV001115458] Chr16:71567981 [GRCh38]
Chr16:71601884 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*479T>A single nucleotide variant Tyrosinemia type II [RCV001120348] Chr16:71567665 [GRCh38]
Chr16:71601568 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.231C>A (p.Ser77=) single nucleotide variant Tyrosinemia type II [RCV001120457] Chr16:71576185 [GRCh38]
Chr16:71610088 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.1178C>T (p.Thr393Met) single nucleotide variant Tyrosinemia type II [RCV001240156] Chr16:71568757 [GRCh38]
Chr16:71602660 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.408+10A>T single nucleotide variant Tyrosinemia type II [RCV000883346] Chr16:71573529 [GRCh38]
Chr16:71607432 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.707-9T>C single nucleotide variant not provided [RCV000975546] Chr16:71571667 [GRCh38]
Chr16:71605570 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.929T>C (p.Val310Ala) single nucleotide variant Tyrosinemia type II [RCV000881964] Chr16:71570381 [GRCh38]
Chr16:71604284 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.1290G>A (p.Ala430=) single nucleotide variant Tyrosinemia type II [RCV000932959] Chr16:71568219 [GRCh38]
Chr16:71602122 [GRCh37]
Chr16:16q22.2
likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
NM_000353.3(TAT):c.*253G>C single nucleotide variant Tyrosinemia type II [RCV001115456] Chr16:71567891 [GRCh38]
Chr16:71601794 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*110C>T single nucleotide variant Tyrosinemia type II [RCV001115459] Chr16:71568034 [GRCh38]
Chr16:71601937 [GRCh37]
Chr16:16q22.2
benign
NM_000353.3(TAT):c.-12-4G>A single nucleotide variant Tyrosinemia type II [RCV001120458] Chr16:71576431 [GRCh38]
Chr16:71610334 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.759+5G>A single nucleotide variant Tyrosinemia type II [RCV001248614] Chr16:71571601 [GRCh38]
Chr16:71605504 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.401A>G (p.Glu134Gly) single nucleotide variant Tyrosinemia type II [RCV001206465] Chr16:71573546 [GRCh38]
Chr16:71607449 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.814del (p.Ile272fs) deletion Tyrosinemia type II [RCV001043576] Chr16:71570777 [GRCh38]
Chr16:71604680 [GRCh37]
Chr16:16q22.2
pathogenic
NM_000353.3(TAT):c.*991T>C single nucleotide variant Tyrosinemia type II [RCV001120047] Chr16:71567153 [GRCh38]
Chr16:71601056 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.*863G>A single nucleotide variant Tyrosinemia type II [RCV001120048] Chr16:71567281 [GRCh38]
Chr16:71601184 [GRCh37]
Chr16:16q22.2
likely benign
NM_000353.3(TAT):c.*742G>A single nucleotide variant Tyrosinemia type II [RCV001120345] Chr16:71567402 [GRCh38]
Chr16:71601305 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.564G>T (p.Leu188Phe) single nucleotide variant Tyrosinemia type II [RCV001246895] Chr16:71572533 [GRCh38]
Chr16:71606436 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.618T>G (p.Asp206Glu) single nucleotide variant Tyrosinemia type II [RCV001120162] Chr16:71572274 [GRCh38]
Chr16:71606177 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.1115T>C (p.Met372Thr) single nucleotide variant Tyrosinemia type II [RCV001118618] Chr16:71569864 [GRCh38]
Chr16:71603767 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.1146T>C (p.His382=) single nucleotide variant Tyrosinemia type II [RCV001118617] Chr16:71568789 [GRCh38]
Chr16:71602692 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_000353.3(TAT):c.1217C>T (p.Pro406Leu) single nucleotide variant Tyrosinemia type II [RCV001255958] Chr16:71568718 [GRCh38]
Chr16:71602621 [GRCh37]
Chr16:16q22.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11573 AgrOrtholog
COSMIC TAT COSMIC
Ensembl Genes ENSG00000198650 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000348234 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000355962 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198650 GTEx
HGNC ID HGNC:11573 ENTREZGENE
Human Proteome Map TAT Human Proteome Map
InterPro Aminotransferase_I/II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NHTrfase_class1_PyrdxlP-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_aminoTrfase_ubiquitination UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrNic_aminoTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyrosine_aminoTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6898 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6898 ENTREZGENE
OMIM 276600 OMIM
  613018 OMIM
Pfam Aminotran_1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TAT_ubiq UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36338 PharmGKB
PIRSF Tyr_transaminase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AA_TRANSFER_CLASS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs tyr_amTase_E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tyr_nico_aTase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VKB7 ENTREZGENE, UniProtKB/TrEMBL
  A1L4G7_HUMAN UniProtKB/TrEMBL
  ATTY_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R8I1 UniProtKB/Swiss-Prot
  D3DWS2 UniProtKB/Swiss-Prot