FAH (fumarylacetoacetate hydrolase) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: FAH (fumarylacetoacetate hydrolase) Homo sapiens
Analyze
Symbol: FAH
Name: fumarylacetoacetate hydrolase
RGD ID: 733367
HGNC Page HGNC
Description: Predicted to have fumarylacetoacetase activity. Predicted to be involved in L-phenylalanine catabolic process; homogentisate catabolic process; and tyrosine catabolic process. Localizes to extracellular exosome. Implicated in tyrosinemia type I.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: beta-diketonase; FAA; FLJ51912; fumarylacetoacetase; fumarylacetoacetate hydrolase (fumarylacetoacetase)
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 Ensembl1580,152,490 - 80,186,946 (+)EnsemblGRCh38hg38GRCh38
GRCh381580,152,789 - 80,186,949 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371580,445,233 - 80,478,924 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361578,232,396 - 78,265,737 (+)NCBINCBI36hg18NCBI36
Build 341578,232,395 - 78,265,737NCBI
Celera1557,382,789 - 57,416,130 (+)NCBI
Cytogenetic Map15q25.1NCBI
HuRef1557,208,400 - 57,236,922 (+)NCBIHuRef
CHM1_11580,563,191 - 80,596,880 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
COVID-19  (HEP)
hypertension  (ISO)
liver cirrhosis  (ISO)
liver disease  (ISO)
Liver Failure  (ISO)
tyrosinemia  (EXP,IAGP,ISO)
tyrosinemia type I  (IAGP,ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(S)-nicotine  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-methoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
benzoates  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
butyric acid  (EXP)
cadmium dichloride  (EXP)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
coumestrol  (EXP)
cyclosporin A  (EXP,ISO)
cyproconazole  (ISO)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethylisopropylamiloride  (EXP)
fenofibrate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
indometacin  (EXP)
lead diacetate  (ISO)
methamphetamine  (ISO)
methapyrilene  (EXP,ISO)
methylmercury chloride  (EXP)
mifepristone  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodimethylamine  (EXP)
nicotine  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP)
pirinixic acid  (EXP,ISO)
propiconazole  (ISO)
pyrogallol  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (EXP)
tauroursodeoxycholic acid  (ISO)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetrahydropalmatine  (EXP)
thimerosal  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1401056   PMID:1998338   PMID:2336361   PMID:2378356   PMID:2378358   PMID:6622096   PMID:7296877   PMID:7550234   PMID:7757089   PMID:7821789   PMID:7942842   PMID:7977370  
PMID:8005583   PMID:8028615   PMID:8162054   PMID:8318997   PMID:8364576   PMID:8422430   PMID:8557261   PMID:8723698   PMID:8829657   PMID:8889548   PMID:9101289   PMID:9305902  
PMID:9633815   PMID:11196105   PMID:11278491   PMID:11476670   PMID:12477932   PMID:14718574   PMID:15465000   PMID:15489334   PMID:15638932   PMID:15759101   PMID:18072279   PMID:19056867  
PMID:20029029   PMID:20201926   PMID:20301688   PMID:21764616   PMID:21873635   PMID:22554029   PMID:22884142   PMID:23376485   PMID:23533145   PMID:23895425   PMID:24016420   PMID:25416956  
PMID:26344197   PMID:26565546   PMID:28755182   PMID:29497141   PMID:30397336   PMID:30843237   PMID:31568711   PMID:32296183  


Genomics

Comparative Map Data
FAH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1580,152,490 - 80,186,946 (+)EnsemblGRCh38hg38GRCh38
GRCh381580,152,789 - 80,186,949 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371580,445,233 - 80,478,924 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361578,232,396 - 78,265,737 (+)NCBINCBI36hg18NCBI36
Build 341578,232,395 - 78,265,737NCBI
Celera1557,382,789 - 57,416,130 (+)NCBI
Cytogenetic Map15q25.1NCBI
HuRef1557,208,400 - 57,236,922 (+)NCBIHuRef
CHM1_11580,563,191 - 80,596,880 (+)NCBICHM1_1
Fah
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39784,234,367 - 84,255,150 (-)NCBIGRCm39mm39
GRCm38784,585,159 - 84,605,942 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl784,585,159 - 84,606,722 (-)EnsemblGRCm38mm10GRCm38
MGSCv37791,733,669 - 91,754,452 (-)NCBIGRCm37mm9NCBIm37
MGSCv36784,461,355 - 84,481,937 (-)NCBImm8
Celera781,987,620 - 82,008,470 (-)NCBICelera
Cytogenetic Map7D3NCBI
cM Map748.36NCBI
Fah
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01146,713,663 - 146,736,339 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1146,713,676 - 146,736,261 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01147,640,316 - 147,662,920 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41140,851,975 - 140,876,187 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11140,930,382 - 140,954,593 (-)NCBI
Celera1130,566,888 - 130,589,532 (-)NCBICelera
Cytogenetic Map1q31NCBI
Fah
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955533904,295 - 921,730 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955533904,294 - 921,730 (+)NCBIChiLan1.0ChiLan1.0
FAH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11578,081,523 - 78,115,169 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1578,048,571 - 78,115,098 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01559,121,657 - 59,155,229 (+)NCBIMhudiblu_PPA_v0panPan3
FAH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl357,300,441 - 57,326,486 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1357,300,422 - 57,326,546 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Fah
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493647138,140,324 - 38,174,472 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl749,047,983 - 49,105,598 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1749,047,833 - 49,087,790 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2754,556,153 - 54,596,338 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FAH
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl263,223,079 - 3,258,657 (-)Ensembl
ChlSab1.1263,223,327 - 3,259,367 (-)NCBI
Fah
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249411,039,389 - 1,056,568 (+)NCBI

Position Markers
GDB:369116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,454,599 - 80,454,648UniSTSGRCh37
Build 361578,241,654 - 78,241,703RGDNCBI36
Celera1557,392,047 - 57,392,096RGD
Cytogenetic Map15q25.1UniSTS
HuRef1557,212,597 - 57,212,646UniSTS
GDB:370745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,472,502 - 80,472,564UniSTSGRCh37
Build 361578,259,557 - 78,259,619RGDNCBI36
Celera1557,409,950 - 57,410,012RGD
Cytogenetic Map15q25.1UniSTS
HuRef1557,230,500 - 57,230,562UniSTS
GDB:512183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,465,404 - 80,465,459UniSTSGRCh37
Build 361578,252,459 - 78,252,514RGDNCBI36
Celera1557,402,852 - 57,402,907RGD
Cytogenetic Map15q25.1UniSTS
HuRef1557,223,399 - 57,223,454UniSTS
GDB:512186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,450,477 - 80,450,537UniSTSGRCh37
Build 361578,237,532 - 78,237,592RGDNCBI36
Celera1557,387,925 - 57,387,985RGD
Cytogenetic Map15q25.1UniSTS
HuRef1557,208,475 - 57,208,535UniSTS
GDB:512189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,464,533 - 80,464,617UniSTSGRCh37
Build 361578,251,588 - 78,251,672RGDNCBI36
Celera1557,401,981 - 57,402,065RGD
Cytogenetic Map15q25.1UniSTS
HuRef1557,222,528 - 57,222,612UniSTS
RH136637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,465,363 - 80,465,564UniSTSGRCh37
Build 361578,252,418 - 78,252,619RGDNCBI36
Celera1557,402,811 - 57,403,012RGD
Cytogenetic Map15q25.1UniSTS
HuRef1557,223,358 - 57,223,559UniSTS
RH77779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,455,812 - 80,455,955UniSTSGRCh37
Build 361578,242,867 - 78,243,010RGDNCBI36
Celera1557,393,260 - 57,393,403RGD
Cytogenetic Map15q25.1UniSTS
HuRef1557,213,810 - 57,213,953UniSTS
GeneMap99-GB4 RH Map15275.78UniSTS
NCBI RH Map15545.2UniSTS
STS-AA010559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371580,455,807 - 80,456,043UniSTSGRCh37
Build 361578,242,862 - 78,243,098RGDNCBI36
Celera1557,393,255 - 57,393,491RGD
Cytogenetic Map15q25.1UniSTS
HuRef1557,213,805 - 57,214,041UniSTS
GeneMap99-GB4 RH Map15281.99UniSTS
RH13  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q25.1UniSTS
GeneMap99-GB4 RH Map15282.91UniSTS
GDB:369113  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q25.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3092
Count of miRNA genes:992
Interacting mature miRNAs:1201
Transcripts:ENST00000261755, ENST00000407106, ENST00000537726, ENST00000539156, ENST00000558022, ENST00000558514, ENST00000558627, ENST00000558767, ENST00000559217, ENST00000559542, ENST00000561353, ENST00000561369, ENST00000561421
Prediction methods:Microtar, 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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 316 951 1453 453 637 446 1619 272 757 337 1166 1076 16 1126 843 1
Low 2117 2015 271 171 1292 19 2737 1903 2955 82 286 531 156 1 78 1945 3 2
Below cutoff 4 23 1 22 22 9 6 6 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ275022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ225295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU679766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S63548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S63549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X51728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z19561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261755   ⟹   ENSP00000261755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1580,152,794 - 80,186,343 (+)Ensembl
RefSeq Acc Id: ENST00000407106   ⟹   ENSP00000385080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1580,152,780 - 80,186,946 (+)Ensembl
RefSeq Acc Id: ENST00000537726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1580,152,789 - 80,163,131 (+)Ensembl
RefSeq Acc Id: ENST00000539156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1580,155,951 - 80,186,348 (+)Ensembl
RefSeq Acc Id: ENST00000558022   ⟹   ENSP00000453152
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1580,152,490 - 80,168,079 (+)Ensembl
RefSeq Acc Id: ENST00000558514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1580,168,051 - 80,168,419 (+)Ensembl
RefSeq Acc Id: ENST00000558627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1580,160,058 - 80,175,092 (+)Ensembl
RefSeq Acc Id: ENST00000558767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1580,152,794 - 80,163,707 (+)Ensembl
RefSeq Acc Id: ENST00000559217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1580,177,407 - 80,186,351 (+)Ensembl
RefSeq Acc Id: ENST00000559542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1580,172,207 - 80,173,753 (+)Ensembl
RefSeq Acc Id: ENST00000561353   ⟹   ENSP00000454952
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1580,175,081 - 80,181,100 (+)Ensembl
RefSeq Acc Id: ENST00000561369
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1580,152,855 - 80,162,483 (+)Ensembl
RefSeq Acc Id: ENST00000561421   ⟹   ENSP00000453347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1580,152,999 - 80,186,349 (+)Ensembl
RefSeq Acc Id: ENST00000646551
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1580,156,492 - 80,186,351 (+)Ensembl
RefSeq Acc Id: NM_000137   ⟹   NP_000128
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381580,152,999 - 80,186,349 (+)NCBI
GRCh371580,445,233 - 80,478,924 (+)ENTREZGENE
Build 361578,232,396 - 78,265,737 (+)NCBI Archive
HuRef1557,208,400 - 57,236,922 (+)ENTREZGENE
CHM1_11580,563,191 - 80,596,880 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374377   ⟹   NP_001361306
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381580,152,789 - 80,186,949 (+)NCBI
RefSeq Acc Id: NM_001374380   ⟹   NP_001361309
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381580,152,789 - 80,186,949 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_000128   ⟸   NM_000137
- UniProtKB: P16930 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001361306   ⟸   NM_001374377
RefSeq Acc Id: NP_001361309   ⟸   NM_001374380
RefSeq Acc Id: ENSP00000453152   ⟸   ENST00000558022
RefSeq Acc Id: ENSP00000453347   ⟸   ENST00000561421
RefSeq Acc Id: ENSP00000454952   ⟸   ENST00000561353
RefSeq Acc Id: ENSP00000385080   ⟸   ENST00000407106
RefSeq Acc Id: ENSP00000261755   ⟸   ENST00000261755
Protein Domains
FAA_hydrolase   FAA_hydrolase_N

Promoters
RGD ID:6792322
Promoter ID:HG_KWN:22081
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000407106,   NM_000137,   UC002BFJ.1,   UC002BFL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361578,231,711 - 78,232,597 (+)MPROMDB
RGD ID:6792323
Promoter ID:HG_KWN:22082
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC002BFN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361578,234,561 - 78,236,417 (+)MPROMDB
RGD ID:7230289
Promoter ID:EPDNEW_H20890
Type:initiation region
Name:FAH_1
Description:fumarylacetoacetate hydrolase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20891  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381580,152,802 - 80,152,862EPDNEW
RGD ID:7230291
Promoter ID:EPDNEW_H20891
Type:initiation region
Name:FAH_2
Description:fumarylacetoacetate hydrolase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20890  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381580,153,014 - 80,153,074EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000137.3(FAH):c.843C>G (p.Pro281=) single nucleotide variant Tyrosinemia type I [RCV000529250] Chr15:80175021 [GRCh38]
Chr15:80467363 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.816T>G (p.Phe272Leu) single nucleotide variant not provided [RCV000723097] Chr15:80173123 [GRCh38]
Chr15:80465465 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.242C>T (p.Ala81Val) single nucleotide variant not provided [RCV000728143] Chr15:80159805 [GRCh38]
Chr15:80452147 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.47A>T (p.Asn16Ile) single nucleotide variant Tyrosinemia type I [RCV000012640] Chr15:80153101 [GRCh38]
Chr15:80445443 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.3(FAH):c.401C>A (p.Ala134Asp) single nucleotide variant Tyrosinemia type I [RCV000012641] Chr15:80162282 [GRCh38]
Chr15:80454624 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic
NM_000137.3(FAH):c.1090G>T (p.Glu364Ter) single nucleotide variant Tyrosinemia type I [RCV000012642] Chr15:80181069 [GRCh38]
Chr15:80473411 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.3(FAH):c.1021C>T (p.Arg341Trp) single nucleotide variant Fumarylacetoacetase pseudodeficiency [RCV000012643]|Tyrosinemia type I [RCV000020125]|not provided [RCV000174220] Chr15:80180184 [GRCh38]
Chr15:80472526 [GRCh37]
Chr15:15q25.1
pathogenic|benign|likely benign|other|not provided
NM_000137.3(FAH):c.1009G>A (p.Gly337Ser) single nucleotide variant Tyrosinemia type I [RCV000012644] Chr15:80180172 [GRCh38]
Chr15:80472514 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000137.4(FAH):c.1062+5G>A single nucleotide variant Tyrosinemia type I [RCV000012645]|not provided [RCV000078135] Chr15:80180230 [GRCh38]
Chr15:80472572 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.3(FAH):c.1069G>T (p.Glu357Ter) single nucleotide variant Tyrosinemia type I [RCV000012646] Chr15:80181048 [GRCh38]
Chr15:80473390 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000137.3(FAH):c.1141A>G (p.Arg381Gly) single nucleotide variant Tyrosinemia type I [RCV000012647] Chr15:80181120 [GRCh38]
Chr15:80473462 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic
NM_000137.3(FAH):c.786G>A (p.Trp262Ter) single nucleotide variant Tyrosinemia type I [RCV000012648] Chr15:80173093 [GRCh38]
Chr15:80465435 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.3(FAH):c.554-1G>T single nucleotide variant Tyrosinemia type I [RCV000012649]|not provided [RCV000078138] Chr15:80168263 [GRCh38]
Chr15:80460605 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.3(FAH):c.836A>G (p.Gln279Arg) single nucleotide variant Tyrosinemia type I [RCV000012650] Chr15:80173143 [GRCh38]
Chr15:80465485 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.3(FAH):c.192G>T (p.Gln64His) single nucleotide variant Tyrosinemia type I [RCV000020126]|not provided [RCV000153218] Chr15:80158170 [GRCh38]
Chr15:80450512 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.3(FAH):c.607-6T>G single nucleotide variant Tyrosinemia type I [RCV000020127] Chr15:80172143 [GRCh38]
Chr15:80464485 [GRCh37]
Chr15:15q25.1
pathogenic|uncertain significance
NM_000137.3(FAH):c.698A>T (p.Asp233Val) single nucleotide variant Tyrosinemia type I [RCV000020128] Chr15:80172240 [GRCh38]
Chr15:80464582 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.3(FAH):c.782C>T (p.Pro261Leu) single nucleotide variant Tyrosinemia type I [RCV000020129]|not provided [RCV000153220] Chr15:80173089 [GRCh38]
Chr15:80465431 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3
pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3
pathogenic
GRCh38/hg38 15q25.1(chr15:79552851-80526230)x3 copy number gain See cases [RCV000052107] Chr15:79552851..80526230 [GRCh38]
Chr15:79845193..80818571 [GRCh37]
Chr15:77632248..78605626 [NCBI36]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.267G>C (p.Leu89=) single nucleotide variant Tyrosinemia type I [RCV000615454]|not provided [RCV000588798]|not specified [RCV000078136] Chr15:80159830 [GRCh38]
Chr15:80452172 [GRCh37]
Chr15:15q25.1
benign|likely benign
NM_000137.3(FAH):c.456G>A (p.Trp152Ter) single nucleotide variant Tyrosinemia type I [RCV000179256]|not provided [RCV000627249] Chr15:80168052 [GRCh38]
Chr15:80460394 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic
NM_000137.3(FAH):c.82-13G>A single nucleotide variant Tyrosinemia type I [RCV000608414]|not specified [RCV000078139] Chr15:80158047 [GRCh38]
Chr15:80450389 [GRCh37]
Chr15:15q25.1
benign
NM_000137.4(FAH):c.880A>C (p.Thr294Pro) single nucleotide variant Tyrosinemia type I [RCV001004596] Chr15:80175058 [GRCh38]
Chr15:80467400 [GRCh37]
Chr15:15q25.1
likely pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
NM_000137.3(FAH):c.1056C>T (p.Ser352=) single nucleotide variant Tyrosinemia type I [RCV000264533]|not specified [RCV000153221] Chr15:80180219 [GRCh38]
Chr15:80472561 [GRCh37]
Chr15:15q25.1
benign|likely benign
NM_000137.3(FAH):c.696C>A (p.Asn232Lys) single nucleotide variant not provided [RCV000153219] Chr15:80172238 [GRCh38]
Chr15:80464580 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.1209C>T (p.Ile403=) single nucleotide variant Tyrosinemia type I [RCV000871310]|not specified [RCV000153222] Chr15:80186158 [GRCh38]
Chr15:80478500 [GRCh37]
Chr15:15q25.1
benign|likely benign|uncertain significance
NM_000137.3(FAH):c.520C>T (p.Arg174Ter) single nucleotide variant Tyrosinemia type I [RCV000169065]|not provided [RCV000413278] Chr15:80168116 [GRCh38]
Chr15:80460458 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic
NM_000137.3(FAH):c.607-1G>A single nucleotide variant Tyrosinemia type I [RCV000169069] Chr15:80172148 [GRCh38]
Chr15:80464490 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.1190del (p.Gln397fs) deletion Tyrosinemia type I [RCV000169267] Chr15:80186139 [GRCh38]
Chr15:80478481 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.192+1G>T single nucleotide variant Tyrosinemia type I [RCV000169491] Chr15:80158171 [GRCh38]
Chr15:80450513 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic
NM_000137.3(FAH):c.243G>A (p.Ala81=) single nucleotide variant Tyrosinemia type I [RCV001087467]|not provided [RCV000724789]|not specified [RCV000176989] Chr15:80159806 [GRCh38]
Chr15:80452148 [GRCh37]
Chr15:15q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000137.3(FAH):c.921A>G (p.Gly307=) single nucleotide variant Tyrosinemia type I [RCV000560667]|not specified [RCV000407173] Chr15:80177544 [GRCh38]
Chr15:80469886 [GRCh37]
Chr15:15q25.1
benign|likely benign
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3
pathogenic
NM_000137.3(FAH):c.553+33A>G single nucleotide variant not specified [RCV000243641] Chr15:80168182 [GRCh38]
Chr15:80460524 [GRCh37]
Chr15:15q25.1
benign
NM_000137.3(FAH):c.81+38dup duplication not specified [RCV000248607] Chr15:80153170..80153171 [GRCh38]
Chr15:80445512..80445513 [GRCh37]
Chr15:15q25.1
benign
NM_000137.3(FAH):c.314+49G>A single nucleotide variant not specified [RCV000248704] Chr15:80159926 [GRCh38]
Chr15:80452268 [GRCh37]
Chr15:15q25.1
benign
NM_000137.3(FAH):c.455+29G>A single nucleotide variant not specified [RCV000253676] Chr15:80162365 [GRCh38]
Chr15:80454707 [GRCh37]
Chr15:15q25.1
benign
NM_000137.3(FAH):c.193-23T>C single nucleotide variant not specified [RCV000252143] Chr15:80159733 [GRCh38]
Chr15:80452075 [GRCh37]
Chr15:15q25.1
benign
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
NM_000137.3(FAH):c.961-35C>A single nucleotide variant not specified [RCV000245178] Chr15:80180089 [GRCh38]
Chr15:80472431 [GRCh37]
Chr15:15q25.1
benign
NM_000137.3(FAH):c.1180+4A>G single nucleotide variant Tyrosinemia type I [RCV000527121]|not specified [RCV000247591] Chr15:80181163 [GRCh38]
Chr15:80473505 [GRCh37]
Chr15:15q25.1
benign|likely benign
NM_000137.3(FAH):c.*38A>C single nucleotide variant not specified [RCV000247693] Chr15:80186247 [GRCh38]
Chr15:80478589 [GRCh37]
Chr15:15q25.1
benign
NM_000137.3(FAH):c.*40C>T single nucleotide variant not specified [RCV000252648] Chr15:80186249 [GRCh38]
Chr15:80478591 [GRCh37]
Chr15:15q25.1
benign
NM_000137.3(FAH):c.841C>A (p.Pro281Thr) single nucleotide variant Tyrosinemia type I [RCV000268513]|not provided [RCV000730663] Chr15:80175019 [GRCh38]
Chr15:80467361 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.139A>G (p.Lys47Glu) single nucleotide variant Tyrosinemia type I [RCV000552336]|not specified [RCV000606933] Chr15:80158117 [GRCh38]
Chr15:80450459 [GRCh37]
Chr15:15q25.1
benign|uncertain significance
NM_000137.3(FAH):c.747A>G (p.Pro249=) single nucleotide variant Tyrosinemia type I [RCV001088137]|not provided [RCV000593551] Chr15:80173054 [GRCh38]
Chr15:80465396 [GRCh37]
Chr15:15q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000137.3(FAH):c.291A>C (p.Arg97Ser) single nucleotide variant Tyrosinemia type I [RCV000311086] Chr15:80159854 [GRCh38]
Chr15:80452196 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_001374377.1(FAH):c.-30+45G>C single nucleotide variant Tyrosinemia type I [RCV000332455] Chr15:80152950 [GRCh38]
Chr15:80445292 [GRCh37]
Chr15:15q25.1
benign|likely benign
NM_000137.3(FAH):c.*310T>A single nucleotide variant Tyrosinemia type I [RCV000335637] Chr15:80186519 [GRCh38]
Chr15:80478861 [GRCh37]
Chr15:15q25.1
benign|likely benign
NM_000137.3(FAH):c.*88C>T single nucleotide variant Tyrosinemia type I [RCV000295391] Chr15:80186297 [GRCh38]
Chr15:80478639 [GRCh37]
Chr15:15q25.1
benign|likely benign
NM_000137.3(FAH):c.-23A>C single nucleotide variant Tyrosinemia type I [RCV000278501] Chr15:80153032 [GRCh38]
Chr15:80445374 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.567A>G (p.Val189=) single nucleotide variant Tyrosinemia type I [RCV000299024] Chr15:80168277 [GRCh38]
Chr15:80460619 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.-43G>T single nucleotide variant Tyrosinemia type I [RCV000318435]|not specified [RCV000602267] Chr15:80153012 [GRCh38]
Chr15:80445354 [GRCh37]
Chr15:15q25.1
likely benign|uncertain significance
NM_001374377.1(FAH):c.-29-34C>A single nucleotide variant Tyrosinemia type I [RCV000263319] Chr15:80152992 [GRCh38]
Chr15:80445334 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.*284C>G single nucleotide variant Tyrosinemia type I [RCV000299361] Chr15:80186493 [GRCh38]
Chr15:80478835 [GRCh37]
Chr15:15q25.1
benign|likely benign
NM_000137.3(FAH):c.412G>A (p.Gly138Arg) single nucleotide variant not provided [RCV000373443] Chr15:80162293 [GRCh38]
Chr15:80454635 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.831G>A (p.Pro277=) single nucleotide variant Tyrosinemia type I [RCV001088359]|not provided [RCV000272248] Chr15:80173138 [GRCh38]
Chr15:80465480 [GRCh37]
Chr15:15q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000137.3(FAH):c.1205G>A (p.Arg402His) single nucleotide variant Tyrosinemia type I [RCV000872427]|not specified [RCV000341142] Chr15:80186154 [GRCh38]
Chr15:80478496 [GRCh37]
Chr15:15q25.1
likely benign|conflicting interpretations of pathogenicity
NM_000137.3(FAH):c.167C>T (p.Ser56Phe) single nucleotide variant Tyrosinemia type I [RCV000394587] Chr15:80158145 [GRCh38]
Chr15:80450487 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.109G>A (p.Gly37Ser) single nucleotide variant Tyrosinemia type I [RCV000394609] Chr15:80158087 [GRCh38]
Chr15:80450429 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.855G>A (p.Pro285=) single nucleotide variant Tyrosinemia type I [RCV001082285]|not provided [RCV000829350] Chr15:80175033 [GRCh38]
Chr15:80467375 [GRCh37]
Chr15:15q25.1
benign|likely benign
NM_000137.3(FAH):c.81+8G>A single nucleotide variant Tyrosinemia type I [RCV000324147] Chr15:80153143 [GRCh38]
Chr15:80445485 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.1259G>A (p.Ter420=) single nucleotide variant Tyrosinemia type I [RCV000605187]|not specified [RCV000343304] Chr15:80186208 [GRCh38]
Chr15:80478550 [GRCh37]
Chr15:15q25.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_000137.3(FAH):c.*138G>A single nucleotide variant Tyrosinemia type I [RCV000397565] Chr15:80186347 [GRCh38]
Chr15:80478689 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.963C>A (p.Tyr321Ter) single nucleotide variant Tyrosinemia type I [RCV000984172]|not provided [RCV000311953] Chr15:80180126 [GRCh38]
Chr15:80472468 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic
NM_000137.3(FAH):c.*94T>C single nucleotide variant Tyrosinemia type I [RCV000350427] Chr15:80186303 [GRCh38]
Chr15:80478645 [GRCh37]
Chr15:15q25.1
benign|likely benign
NM_000137.3(FAH):c.-34C>T single nucleotide variant Tyrosinemia type I [RCV000373041]|not specified [RCV000431191] Chr15:80153021 [GRCh38]
Chr15:80445363 [GRCh37]
Chr15:15q25.1
benign|uncertain significance
NM_000137.3(FAH):c.249G>A (p.Val83=) single nucleotide variant Tyrosinemia type I [RCV000877385] Chr15:80159812 [GRCh38]
Chr15:80452154 [GRCh37]
Chr15:15q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000137.3(FAH):c.81+12G>A single nucleotide variant Tyrosinemia type I [RCV000378744]|not specified [RCV000606018] Chr15:80153147 [GRCh38]
Chr15:80445489 [GRCh37]
Chr15:15q25.1
likely benign|uncertain significance
NM_000137.3(FAH):c.133A>G (p.Ile45Val) single nucleotide variant not provided [RCV000389886] Chr15:80158111 [GRCh38]
Chr15:80450453 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.715A>T (p.Ile239Phe) single nucleotide variant Tyrosinemia type I [RCV000872523]|not specified [RCV000323250] Chr15:80173022 [GRCh38]
Chr15:80465364 [GRCh37]
Chr15:15q25.1
likely benign|uncertain significance
NM_000137.3(FAH):c.296A>G (p.Asp99Gly) single nucleotide variant Hypertyrosinemia [RCV000357369]|Tyrosinemia type I [RCV000915774]|not specified [RCV000597442] Chr15:80159859 [GRCh38]
Chr15:80452201 [GRCh37]
Chr15:15q25.1
likely benign|uncertain significance
NM_000137.3(FAH):c.302A>G (p.Glu101Gly) single nucleotide variant not provided [RCV000289460] Chr15:80159865 [GRCh38]
Chr15:80452207 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.90G>C (p.Pro30=) single nucleotide variant Tyrosinemia type I [RCV000339318] Chr15:80158068 [GRCh38]
Chr15:80450410 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.1079G>A (p.Gly360Asp) single nucleotide variant not provided [RCV000405388] Chr15:80181058 [GRCh38]
Chr15:80473400 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.648C>A (p.Ile216=) single nucleotide variant Tyrosinemia type I [RCV001080982]|not provided [RCV000596735] Chr15:80172190 [GRCh38]
Chr15:80464532 [GRCh37]
Chr15:15q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000137.3(FAH):c.147C>G (p.Leu49=) single nucleotide variant Tyrosinemia type I [RCV000344993] Chr15:80158125 [GRCh38]
Chr15:80450467 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.1109C>T (p.Thr370Met) single nucleotide variant not provided [RCV000596843] Chr15:80181088 [GRCh38]
Chr15:80473430 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.*317G>A single nucleotide variant Tyrosinemia type I [RCV000400843] Chr15:80186526 [GRCh38]
Chr15:80478868 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.1152G>T (p.Leu384=) single nucleotide variant Tyrosinemia type I [RCV000384094] Chr15:80181131 [GRCh38]
Chr15:80473473 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_001374377.1(FAH):c.-29-38C>A single nucleotide variant Tyrosinemia type I [RCV000368485] Chr15:80152988 [GRCh38]
Chr15:80445330 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.*51del deletion Hypertyrosinemia [RCV000389756] Chr15:80186258 [GRCh38]
Chr15:80478600 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.2(FAH):c.-178G>A single nucleotide variant Hypertyrosinemia [RCV000387673] Chr15:80152877 [GRCh38]
Chr15:80445219 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.-7C>T single nucleotide variant not specified [RCV000604104] Chr15:80153048 [GRCh38]
Chr15:80445390 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.934G>A (p.Ala312Thr) single nucleotide variant not provided [RCV000591730] Chr15:80177557 [GRCh38]
Chr15:80469899 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.565G>A (p.Val189Ile) single nucleotide variant Tyrosinemia type I [RCV000872846]|not specified [RCV000592341] Chr15:80168275 [GRCh38]
Chr15:80460617 [GRCh37]
Chr15:15q25.1
likely benign|conflicting interpretations of pathogenicity
NM_000137.3(FAH):c.314+18A>G single nucleotide variant not specified [RCV000607047] Chr15:80159895 [GRCh38]
Chr15:80452237 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.1204C>T (p.Arg402Cys) single nucleotide variant not provided [RCV000593019] Chr15:80186153 [GRCh38]
Chr15:80478495 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.707-7_707-5del microsatellite Tyrosinemia type I [RCV000665800]|not provided [RCV000593596] Chr15:80173002..80173004 [GRCh38]
Chr15:80465344..80465346 [GRCh37]
Chr15:15q25.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000137.3(FAH):c.300C>T (p.Thr100=) single nucleotide variant not provided [RCV000593696] Chr15:80159863 [GRCh38]
Chr15:80452205 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.409G>A (p.Val137Ile) single nucleotide variant not provided [RCV000598087] Chr15:80162290 [GRCh38]
Chr15:80454632 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.1A>G (p.Met1Val) single nucleotide variant Tyrosinemia type I [RCV000984171]|not provided [RCV000414667] Chr15:80153055 [GRCh38]
Chr15:80445397 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic
NM_000137.3(FAH):c.864C>T (p.Cys288=) single nucleotide variant Tyrosinemia type I [RCV001115331]|not provided [RCV000730192] Chr15:80175042 [GRCh38]
Chr15:80467384 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.620G>A (p.Gly207Asp) single nucleotide variant not provided [RCV000730225] Chr15:80172162 [GRCh38]
Chr15:80464504 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.81+2T>C single nucleotide variant Tyrosinemia type I [RCV000409344] Chr15:80153137 [GRCh38]
Chr15:80445479 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.1213_1214delinsCA (p.Phe405His) indel not provided [RCV000730692] Chr15:80186162..80186163 [GRCh38]
Chr15:80478504..80478505 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_001374377.1(FAH):c.*288G>A single nucleotide variant Tyrosinemia type I [RCV001120009] Chr15:80186497 [GRCh38]
Chr15:80478839 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.455G>A (p.Trp152Ter) single nucleotide variant Tyrosinemia type I [RCV000409617] Chr15:80162336 [GRCh38]
Chr15:80454678 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.1258T>G (p.Ter420Gly) single nucleotide variant Tyrosinemia type I [RCV000409632] Chr15:80186207 [GRCh38]
Chr15:80478549 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.615del (p.Phe205fs) deletion Tyrosinemia type I [RCV000409747] Chr15:80172151 [GRCh38]
Chr15:80464493 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.960+1G>A single nucleotide variant Tyrosinemia type I [RCV000409775] Chr15:80177584 [GRCh38]
Chr15:80469926 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.744del (p.Pro249fs) deletion Tyrosinemia type I [RCV000409787] Chr15:80173049 [GRCh38]
Chr15:80465391 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.492del (p.Ser165fs) deletion Tyrosinemia type I [RCV000409803] Chr15:80168087 [GRCh38]
Chr15:80460429 [GRCh37]
Chr15:15q25.1
likely pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
NM_000137.3(FAH):c.583C>G (p.Leu195Val) single nucleotide variant not provided [RCV000733809] Chr15:80168293 [GRCh38]
Chr15:80460635 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.1258T>C (p.Ter420Arg) single nucleotide variant Tyrosinemia type I [RCV000410008] Chr15:80186207 [GRCh38]
Chr15:80478549 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.237G>A (p.Lys79=) single nucleotide variant not provided [RCV000732166] Chr15:80159800 [GRCh38]
Chr15:80452142 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.1022G>A (p.Arg341Gln) single nucleotide variant not provided [RCV000734372] Chr15:80180185 [GRCh38]
Chr15:80472527 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.438del (p.Asn146fs) deletion Tyrosinemia type I [RCV000410205] Chr15:80162319 [GRCh38]
Chr15:80454661 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.14del (p.Pro5fs) deletion Tyrosinemia type I [RCV000410365] Chr15:80153066 [GRCh38]
Chr15:80445408 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.1051A>G (p.Ile351Val) single nucleotide variant not provided [RCV000728581] Chr15:80180214 [GRCh38]
Chr15:80472556 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.1195G>A (p.Asp399Asn) single nucleotide variant not provided [RCV000734432] Chr15:80186144 [GRCh38]
Chr15:80478486 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.772A>G (p.Thr258Ala) single nucleotide variant not provided [RCV000734445] Chr15:80173079 [GRCh38]
Chr15:80465421 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.314+1G>A single nucleotide variant Tyrosinemia type I [RCV000410626] Chr15:80159878 [GRCh38]
Chr15:80452220 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.134T>C (p.Ile45Thr) single nucleotide variant not provided [RCV000730399] Chr15:80158112 [GRCh38]
Chr15:80450454 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.644C>T (p.Pro215Leu) single nucleotide variant not provided [RCV000734521] Chr15:80172186 [GRCh38]
Chr15:80464528 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.771C>G (p.Thr257=) single nucleotide variant not provided [RCV000731461] Chr15:80173078 [GRCh38]
Chr15:80465420 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.891C>T (p.Ile297=) single nucleotide variant not provided [RCV000732374] Chr15:80175069 [GRCh38]
Chr15:80467411 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.1181-1G>A single nucleotide variant Tyrosinemia type I [RCV000411156] Chr15:80186129 [GRCh38]
Chr15:80478471 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.1057G>A (p.Gly353Arg) single nucleotide variant not provided [RCV000734715] Chr15:80180220 [GRCh38]
Chr15:80472562 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.776_777TC[2] (p.Pro261fs) microsatellite Tyrosinemia type I [RCV000411340] Chr15:80173083..80173084 [GRCh38]
Chr15:80465425..80465426 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.707C>T (p.Ala236Val) single nucleotide variant not provided [RCV000734788] Chr15:80173014 [GRCh38]
Chr15:80465356 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.461_491del (p.His154fs) deletion Tyrosinemia type I [RCV000412142] Chr15:80168056..80168086 [GRCh38]
Chr15:80460398..80460428 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.2T>A (p.Met1Lys) single nucleotide variant Tyrosinemia type I [RCV000412267] Chr15:80153056 [GRCh38]
Chr15:80445398 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.1210G>A (p.Gly404Ser) single nucleotide variant Tyrosinemia type I [RCV000541997]|not provided [RCV001171904] Chr15:80186159 [GRCh38]
Chr15:80478501 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic|uncertain significance
NM_000137.3(FAH):c.318A>G (p.Ala106=) single nucleotide variant not provided [RCV000731768] Chr15:80160413 [GRCh38]
Chr15:80452755 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.271G>A (p.Val91Met) single nucleotide variant not provided [RCV000732920] Chr15:80159834 [GRCh38]
Chr15:80452176 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.510C>T (p.Gly170=) single nucleotide variant not provided [RCV000730854] Chr15:80168106 [GRCh38]
Chr15:80460448 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.81+2T>A single nucleotide variant Tyrosinemia type I [RCV000454161] Chr15:80153137 [GRCh38]
Chr15:80445479 [GRCh37]
Chr15:15q25.1
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
NM_000137.3(FAH):c.483C>T (p.Gly161=) single nucleotide variant Tyrosinemia type I [RCV000545069]|not specified [RCV000441364] Chr15:80168079 [GRCh38]
Chr15:80460421 [GRCh37]
Chr15:15q25.1
benign
NM_000137.3(FAH):c.961-17G>A single nucleotide variant Tyrosinemia type I [RCV000665067]|not specified [RCV000423880] Chr15:80180107 [GRCh38]
Chr15:80472449 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.706+9T>C single nucleotide variant Tyrosinemia type I [RCV000871016]|not specified [RCV000428567] Chr15:80172257 [GRCh38]
Chr15:80464599 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.870C>T (p.Asp290=) single nucleotide variant Tyrosinemia type I [RCV001087444]|not provided [RCV000730105]|not specified [RCV000431994] Chr15:80175048 [GRCh38]
Chr15:80467390 [GRCh37]
Chr15:15q25.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000137.3(FAH):c.553+10C>T single nucleotide variant Tyrosinemia type I [RCV001083294]|not provided [RCV000729101]|not specified [RCV000432142] Chr15:80168159 [GRCh38]
Chr15:80460501 [GRCh37]
Chr15:15q25.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000137.3(FAH):c.456-20C>T single nucleotide variant not specified [RCV000422035] Chr15:80168032 [GRCh38]
Chr15:80460374 [GRCh37]
Chr15:15q25.1
benign
NM_000137.3(FAH):c.82-19G>A single nucleotide variant not specified [RCV000419573] Chr15:80158041 [GRCh38]
Chr15:80450383 [GRCh37]
Chr15:15q25.1
benign
NM_000137.3(FAH):c.1062G>A (p.Pro354=) single nucleotide variant not specified [RCV000422214] Chr15:80180225 [GRCh38]
Chr15:80472567 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.1026G>A (p.Pro342=) single nucleotide variant not specified [RCV000436331] Chr15:80180189 [GRCh38]
Chr15:80472531 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.165C>T (p.Leu55=) single nucleotide variant Tyrosinemia type I [RCV000530775]|not specified [RCV000436589] Chr15:80158143 [GRCh38]
Chr15:80450485 [GRCh37]
Chr15:15q25.1
benign
NM_000137.3(FAH):c.554-20T>G single nucleotide variant not specified [RCV000430098] Chr15:80168244 [GRCh38]
Chr15:80460586 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.315-14G>A single nucleotide variant Tyrosinemia type I [RCV001119929]|not specified [RCV000426563] Chr15:80160396 [GRCh38]
Chr15:80452738 [GRCh37]
Chr15:15q25.1
benign|likely benign
NM_000137.3(FAH):c.961-15G>A single nucleotide variant not specified [RCV000444239] Chr15:80180109 [GRCh38]
Chr15:80472451 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.975G>C (p.Thr325=) single nucleotide variant not specified [RCV000430473] Chr15:80180138 [GRCh38]
Chr15:80472480 [GRCh37]
Chr15:15q25.1
likely benign
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_000137.3(FAH):c.709C>T (p.Arg237Ter) single nucleotide variant Tyrosinemia type I [RCV000502414] Chr15:80173016 [GRCh38]
Chr15:80465358 [GRCh37]
Chr15:15q25.1
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_000137.3(FAH):c.107T>C (p.Ile36Thr) single nucleotide variant Tyrosinemia type I [RCV000668209]|not provided [RCV000494624] Chr15:80158085 [GRCh38]
Chr15:80450427 [GRCh37]
Chr15:15q25.1
likely pathogenic|uncertain significance
NM_000137.3(FAH):c.455+9T>C single nucleotide variant Tyrosinemia type I [RCV000979961]|not specified [RCV000603567] Chr15:80162345 [GRCh38]
Chr15:80454687 [GRCh37]
Chr15:15q25.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_000137.3(FAH):c.411C>T (p.Val137=) single nucleotide variant not specified [RCV000607119] Chr15:80162292 [GRCh38]
Chr15:80454634 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.141G>A (p.Lys47=) single nucleotide variant not provided [RCV000596841] Chr15:80158119 [GRCh38]
Chr15:80450461 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.455+19G>C single nucleotide variant not specified [RCV000616637] Chr15:80162355 [GRCh38]
Chr15:80454697 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.616G>A (p.Val206Ile) single nucleotide variant not provided [RCV000595165] Chr15:80172158 [GRCh38]
Chr15:80464500 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.961-16C>T single nucleotide variant not specified [RCV000608527] Chr15:80180108 [GRCh38]
Chr15:80472450 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.82-14C>T single nucleotide variant not specified [RCV000614648] Chr15:80158046 [GRCh38]
Chr15:80450388 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.1098G>A (p.Ser366=) single nucleotide variant Tyrosinemia type I [RCV000872851]|not specified [RCV000597301] Chr15:80181077 [GRCh38]
Chr15:80473419 [GRCh37]
Chr15:15q25.1
benign|likely benign
NM_000137.3(FAH):c.315-18C>G single nucleotide variant not specified [RCV000606007] Chr15:80160392 [GRCh38]
Chr15:80452734 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.854_855insTGGCCCCTGCC (p.Tyr286fs) insertion Tyrosinemia type I [RCV000673058] Chr15:80175022..80175023 [GRCh38]
Chr15:80467364..80467365 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.961-2A>C single nucleotide variant Tyrosinemia type I [RCV000673102] Chr15:80180122 [GRCh38]
Chr15:80472464 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.315-2A>G single nucleotide variant Tyrosinemia type I [RCV000669746] Chr15:80160408 [GRCh38]
Chr15:80452750 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.885dup (p.Asp296Ter) duplication Tyrosinemia type I [RCV000671736] Chr15:80175060..80175061 [GRCh38]
Chr15:80467402..80467403 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.1156G>C (p.Asp386His) single nucleotide variant Tyrosinemia type I [RCV000667956] Chr15:80181135 [GRCh38]
Chr15:80473477 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.298_300del (p.Thr100del) deletion Tyrosinemia type I [RCV000670957] Chr15:80159860..80159862 [GRCh38]
Chr15:80452202..80452204 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.696C>T (p.Asn232=) single nucleotide variant Tyrosinemia type I [RCV000666812] Chr15:80172238 [GRCh38]
Chr15:80464580 [GRCh37]
Chr15:15q25.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000137.3(FAH):c.456-2A>G single nucleotide variant Tyrosinemia type I [RCV000666014] Chr15:80168050 [GRCh38]
Chr15:80460392 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.497T>G (p.Val166Gly) single nucleotide variant Tyrosinemia type I [RCV000674680] Chr15:80168093 [GRCh38]
Chr15:80460435 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.787G>A (p.Val263Met) single nucleotide variant Tyrosinemia type I [RCV000669534] Chr15:80173094 [GRCh38]
Chr15:80465436 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.700T>G (p.Trp234Gly) single nucleotide variant Tyrosinemia type I [RCV000670317] Chr15:80172242 [GRCh38]
Chr15:80464584 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.706+2T>G single nucleotide variant Tyrosinemia type I [RCV000665299] Chr15:80172250 [GRCh38]
Chr15:80464592 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic
NM_000137.3(FAH):c.1063-2A>G single nucleotide variant Tyrosinemia type I [RCV000674452] Chr15:80181040 [GRCh38]
Chr15:80473382 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.1159G>A (p.Gly387Arg) single nucleotide variant Tyrosinemia type I [RCV000667864] Chr15:80181138 [GRCh38]
Chr15:80473480 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.707-1G>A single nucleotide variant Tyrosinemia type I [RCV000674905] Chr15:80173013 [GRCh38]
Chr15:80465355 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.3(FAH):c.974C>T (p.Thr325Met) single nucleotide variant Tyrosinemia type I [RCV000668164] Chr15:80180137 [GRCh38]
Chr15:80472479 [GRCh37]
Chr15:15q25.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000137.3(FAH):c.398A>T (p.His133Leu) single nucleotide variant Tyrosinemia type I [RCV000673595] Chr15:80162279 [GRCh38]
Chr15:80454621 [GRCh37]
Chr15:15q25.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000137.3(FAH):c.1195G>C (p.Asp399His) single nucleotide variant Tyrosinemia type I [RCV000668418] Chr15:80186144 [GRCh38]
Chr15:80478486 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.3(FAH):c.82-1G>A single nucleotide variant Tyrosinemia type I [RCV000667011] Chr15:80158059 [GRCh38]
Chr15:80450401 [GRCh37]
Chr15:15q25.1
likely pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
NM_000137.3(FAH):c.193-2A>G single nucleotide variant Tyrosinemia type I [RCV000665905] Chr15:80159754 [GRCh38]
Chr15:80452096 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.1025C>T (p.Pro342Leu) single nucleotide variant Tyrosinemia type I [RCV000665974]|not provided [RCV001092619] Chr15:80180188 [GRCh38]
Chr15:80472530 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.3(FAH):c.835del (p.Gln279fs) deletion Tyrosinemia type I [RCV000666109] Chr15:80173142 [GRCh38]
Chr15:80465484 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.3(FAH):c.1027G>A (p.Gly343Arg) single nucleotide variant Tyrosinemia type I [RCV000674888] Chr15:80180190 [GRCh38]
Chr15:80472532 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic
NM_000137.4(FAH):c.553+2_553+3del microsatellite Tyrosinemia type I [RCV000667407] Chr15:80168149..80168150 [GRCh38]
Chr15:80460491..80460492 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2 copy number gain not provided [RCV000683712] Chr15:79023343..87158823 [GRCh37]
Chr15:15q25.1-25.3
pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
NM_000137.3(FAH):c.1027G>T (p.Gly343Trp) single nucleotide variant Tyrosinemia type I [RCV000699322]|not provided [RCV000733554] Chr15:80180190 [GRCh38]
Chr15:80472532 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic
NM_000137.3(FAH):c.742G>A (p.Gly248Arg) single nucleotide variant Tyrosinemia type I [RCV000690807] Chr15:80173049 [GRCh38]
Chr15:80465391 [GRCh37]
Chr15:15q25.1
uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_000137.4(FAH):c.741C>T (p.Leu247=) single nucleotide variant Tyrosinemia type I [RCV000872385] Chr15:80173048 [GRCh38]
Chr15:80465390 [GRCh37]
Chr15:15q25.1
likely benign|conflicting interpretations of pathogenicity
NM_000137.4(FAH):c.745C>T (p.Pro249Ser) single nucleotide variant Tyrosinemia type I [RCV000989362] Chr15:80173052 [GRCh38]
Chr15:80465394 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.4(FAH):c.666T>C (p.His222=) single nucleotide variant not provided [RCV000923947] Chr15:80172208 [GRCh38]
Chr15:80464550 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.4(FAH):c.181G>T (p.Val61Phe) single nucleotide variant Tyrosinemia type I [RCV000864425] Chr15:80158159 [GRCh38]
Chr15:80450501 [GRCh37]
Chr15:15q25.1
benign|likely benign
NM_000137.4(FAH):c.441G>A (p.Ala147=) single nucleotide variant Tyrosinemia type I [RCV000982595] Chr15:80162322 [GRCh38]
Chr15:80454664 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.4(FAH):c.192+9T>C single nucleotide variant Tyrosinemia type I [RCV000982871] Chr15:80158179 [GRCh38]
Chr15:80450521 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.4(FAH):c.1125G>A (p.Leu375=) single nucleotide variant not provided [RCV000925287] Chr15:80181104 [GRCh38]
Chr15:80473446 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.4(FAH):c.51G>A (p.Leu17=) single nucleotide variant not provided [RCV000942221] Chr15:80153105 [GRCh38]
Chr15:80445447 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.4(FAH):c.606+1G>A single nucleotide variant Tyrosinemia type I [RCV001055325] Chr15:80168317 [GRCh38]
Chr15:80460659 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.4(FAH):c.678T>G (p.Phe226Leu) single nucleotide variant Tyrosinemia type I [RCV001057501] Chr15:80172220 [GRCh38]
Chr15:80464562 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.297C>T (p.Asp99=) single nucleotide variant not provided [RCV000980799] Chr15:80159860 [GRCh38]
Chr15:80452202 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.4(FAH):c.783G>A (p.Pro261=) single nucleotide variant not provided [RCV000941862] Chr15:80173090 [GRCh38]
Chr15:80465432 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.4(FAH):c.996C>T (p.His332=) single nucleotide variant Tyrosinemia type I [RCV000921322] Chr15:80180159 [GRCh38]
Chr15:80472501 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.407A>G (p.Asn136Ser) single nucleotide variant Tyrosinemia type I [RCV000820739] Chr15:80162288 [GRCh38]
Chr15:80454630 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.961-8G>T single nucleotide variant Tyrosinemia type I [RCV000975685] Chr15:80180116 [GRCh38]
Chr15:80472458 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.4(FAH):c.969C>T (p.Tyr323=) single nucleotide variant not provided [RCV000977086] Chr15:80180132 [GRCh38]
Chr15:80472474 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.3(FAH):c.548_553+20del deletion Tyrosinemia type I [RCV000801084] Chr15:80168144..80168169 [GRCh38]
Chr15:80460486..80460511 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.150T>C (p.Phe50=) single nucleotide variant Tyrosinemia type I [RCV001086865]|not provided [RCV000840129] Chr15:80158128 [GRCh38]
Chr15:80450470 [GRCh37]
Chr15:15q25.1
likely benign|conflicting interpretations of pathogenicity
NM_000137.3(FAH):c.364+2T>G single nucleotide variant Tyrosinemia type I [RCV000816762] Chr15:80160461 [GRCh38]
Chr15:80452803 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.3(FAH):c.82_83del (p.Pro28fs) deletion Tyrosinemia type I [RCV000786984] Chr15:80158060..80158061 [GRCh38]
Chr15:80450402..80450403 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.3(FAH):c.1077C>T (p.Phe359=) single nucleotide variant not provided [RCV000842460] Chr15:80181056 [GRCh38]
Chr15:80473398 [GRCh37]
Chr15:15q25.1
likely benign
NC_000015.10:g.(?_80177527)_(80186219_?)del deletion Tyrosinemia type I [RCV001031147] Chr15:80469869..80478561 [GRCh37]
Chr15:15q25.1
pathogenic
NC_000015.9:g.(?_80403807)_(81274523_?)dup duplication Tyrosinemia type I [RCV001031622] Chr15:80403807..81274523 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.987G>T (p.Gln329His) single nucleotide variant Tyrosinemia type I [RCV001115333] Chr15:80180150 [GRCh38]
Chr15:80472492 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.978dup (p.Leu327fs) duplication Tyrosinemia type I [RCV000813518] Chr15:80180140..80180141 [GRCh38]
Chr15:80472482..80472483 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.4(FAH):c.484C>T (p.Arg162Cys) single nucleotide variant Tyrosinemia type I [RCV001119932] Chr15:80168080 [GRCh38]
Chr15:80460422 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.1029G>A (p.Gly343=) single nucleotide variant Tyrosinemia type I [RCV001118486] Chr15:80180192 [GRCh38]
Chr15:80472534 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.314+4A>G single nucleotide variant Tyrosinemia type I [RCV001119928] Chr15:80159881 [GRCh38]
Chr15:80452223 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.455+3A>G single nucleotide variant Tyrosinemia type I [RCV001119930] Chr15:80162339 [GRCh38]
Chr15:80454681 [GRCh37]
Chr15:15q25.1
uncertain significance
GRCh37/hg19 15q25.1(chr15:80472308-80484049)x1 copy number loss not provided [RCV000849164] Chr15:80472308..80484049 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.221del (p.Gly74fs) deletion Tyrosinemia type I [RCV001068812] Chr15:80159782 [GRCh38]
Chr15:80452124 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.4(FAH):c.1003_1004del (p.Val335fs) deletion Tyrosinemia type I [RCV000989363] Chr15:80180165..80180166 [GRCh38]
Chr15:80472507..80472508 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.4(FAH):c.554-16del deletion Tyrosinemia [RCV001027948] Chr15:80168235 [GRCh38]
Chr15:80460577 [GRCh37]
Chr15:15q25.1
benign
NM_000137.4(FAH):c.272T>G (p.Val91Gly) single nucleotide variant Tyrosinemia type I [RCV001240255] Chr15:80159835 [GRCh38]
Chr15:80452177 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.3G>A (p.Met1Ile) single nucleotide variant Tyrosinemia type I [RCV001222787] Chr15:80153057 [GRCh38]
Chr15:80445399 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.4(FAH):c.354del (p.Ala119fs) deletion Tyrosinemia type I [RCV001240948] Chr15:80160449 [GRCh38]
Chr15:80452791 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.4(FAH):c.532G>C (p.Gly178Arg) single nucleotide variant Tyrosinemia type I [RCV001239980] Chr15:80168128 [GRCh38]
Chr15:80460470 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.89C>T (p.Pro30Leu) single nucleotide variant Tyrosinemia type I [RCV001115239] Chr15:80158067 [GRCh38]
Chr15:80450409 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.775G>C (p.Val259Leu) single nucleotide variant Tyrosinemia type I [RCV001115330] Chr15:80173082 [GRCh38]
Chr15:80465424 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.9C>T (p.Phe3=) single nucleotide variant not provided [RCV000930863] Chr15:80153063 [GRCh38]
Chr15:80445405 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.4(FAH):c.1188C>T (p.Cys396=) single nucleotide variant not provided [RCV000932775] Chr15:80186137 [GRCh38]
Chr15:80478479 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.4(FAH):c.1158C>T (p.Asp386=) single nucleotide variant Tyrosinemia type I [RCV000920232] Chr15:80181137 [GRCh38]
Chr15:80473479 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.4(FAH):c.391C>T (p.Arg131Trp) single nucleotide variant Tyrosinemia type I [RCV000942600] Chr15:80162272 [GRCh38]
Chr15:80454614 [GRCh37]
Chr15:15q25.1
likely benign|conflicting interpretations of pathogenicity
NM_000137.4(FAH):c.564C>T (p.Pro188=) single nucleotide variant Tyrosinemia type I [RCV000951980] Chr15:80168274 [GRCh38]
Chr15:80460616 [GRCh37]
Chr15:15q25.1
likely benign
NM_000137.4(FAH):c.543A>G (p.Lys181=) single nucleotide variant Tyrosinemia type I [RCV000944274] Chr15:80168139 [GRCh38]
Chr15:80460481 [GRCh37]
Chr15:15q25.1
benign
NM_000137.4(FAH):c.615T>A (p.Phe205Leu) single nucleotide variant Tyrosinemia type I [RCV001236021] Chr15:80172157 [GRCh38]
Chr15:80464499 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.1193G>A (p.Gly398Glu) single nucleotide variant Tyrosinemia type I [RCV001240020] Chr15:80186142 [GRCh38]
Chr15:80478484 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.1063-1G>A single nucleotide variant Tyrosinemia type I [RCV001051750] Chr15:80181041 [GRCh38]
Chr15:80473383 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.4(FAH):c.10A>C (p.Ile4Leu) single nucleotide variant Tyrosinemia type I [RCV001243923] Chr15:80153064 [GRCh38]
Chr15:80445406 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.1213T>C (p.Phe405Leu) single nucleotide variant Tyrosinemia type I [RCV000989364] Chr15:80186162 [GRCh38]
Chr15:80478504 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.1214T>A (p.Phe405Tyr) single nucleotide variant Tyrosinemia type I [RCV000989365] Chr15:80186163 [GRCh38]
Chr15:80478505 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.726G>A (p.Trp242Ter) single nucleotide variant Tyrosinemia type I [RCV001004595] Chr15:80173033 [GRCh38]
Chr15:80465375 [GRCh37]
Chr15:15q25.1
pathogenic|likely pathogenic
NM_000137.4(FAH):c.707-1G>C single nucleotide variant Tyrosinemia type I [RCV001192777] Chr15:80173013 [GRCh38]
Chr15:80465355 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.4(FAH):c.-40C>G single nucleotide variant Tyrosinemia type I [RCV001121811] Chr15:80153015 [GRCh38]
Chr15:80445357 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.554-15C>T single nucleotide variant Tyrosinemia type I [RCV001121912] Chr15:80168249 [GRCh38]
Chr15:80460591 [GRCh37]
Chr15:15q25.1
benign
NM_000137.4(FAH):c.462C>A (p.His154Gln) single nucleotide variant Tyrosinemia type I [RCV001119931] Chr15:80168058 [GRCh38]
Chr15:80460400 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.*129T>C single nucleotide variant Tyrosinemia type I [RCV001120008] Chr15:80186338 [GRCh38]
Chr15:80478680 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.982C>T (p.Gln328Ter) single nucleotide variant Tyrosinemia type I [RCV001004597] Chr15:80180145 [GRCh38]
Chr15:80472487 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.4(FAH):c.1180+1G>A single nucleotide variant Tyrosinemia type I [RCV001004598] Chr15:80181160 [GRCh38]
Chr15:80473502 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.4(FAH):c.615dup (p.Val206fs) duplication Tyrosinemia type I [RCV001207091] Chr15:80172150..80172151 [GRCh38]
Chr15:80464492..80464493 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.4(FAH):c.315-3C>G single nucleotide variant Tyrosinemia type I [RCV001202858] Chr15:80160407 [GRCh38]
Chr15:80452749 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.4(FAH):c.295G>A (p.Asp99Asn) single nucleotide variant Tyrosinemia type I [RCV001038357] Chr15:80159858 [GRCh38]
Chr15:80452200 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.535_536del (p.Gln179fs) deletion Tyrosinemia type I [RCV001230099] Chr15:80168130..80168131 [GRCh38]
Chr15:80460472..80460473 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.4(FAH):c.1180+10G>A single nucleotide variant Tyrosinemia type I [RCV001118487] Chr15:80181169 [GRCh38]
Chr15:80473511 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.710G>A (p.Arg237Gln) single nucleotide variant Tyrosinemia type I [RCV001055499] Chr15:80173017 [GRCh38]
Chr15:80465359 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.424A>G (p.Arg142Gly) single nucleotide variant Tyrosinemia type I [RCV001192778] Chr15:80162305 [GRCh38]
Chr15:80454647 [GRCh37]
Chr15:15q25.1
pathogenic
NM_000137.4(FAH):c.940A>G (p.Ile314Val) single nucleotide variant Tyrosinemia type I [RCV001115332] Chr15:80177563 [GRCh38]
Chr15:80469905 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.1030del (p.Asp344fs) deletion Tyrosinemia type I [RCV001216255] Chr15:80180189 [GRCh38]
Chr15:80472531 [GRCh37]
Chr15:15q25.1
pathogenic
NM_001374377.1(FAH):c.-39C>G single nucleotide variant Tyrosinemia type I [RCV001119824] Chr15:80152896 [GRCh38]
Chr15:80445238 [GRCh37]
Chr15:15q25.1
uncertain significance
NM_000137.4(FAH):c.1025dup (p.Asp344fs) duplication Tyrosinemia type I [RCV001215629] Chr15:80180186..80180187 [GRCh38]
Chr15:80472528..80472529 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.4(FAH):c.919G>T (p.Gly307Ter) single nucleotide variant Tyrosinemia type I [RCV001263703] Chr15:80177542 [GRCh38]
Chr15:80469884 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.4(FAH):c.971G>A (p.Trp324Ter) single nucleotide variant Tyrosinemia type I [RCV001263704] Chr15:80180134 [GRCh38]
Chr15:80472476 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.4(FAH):c.394C>T (p.Gln132Ter) single nucleotide variant Tyrosinemia type I [RCV001264276] Chr15:80162275 [GRCh38]
Chr15:80454617 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.4(FAH):c.835C>T (p.Gln279Ter) single nucleotide variant Tyrosinemia type I [RCV001264277] Chr15:80173142 [GRCh38]
Chr15:80465484 [GRCh37]
Chr15:15q25.1
likely pathogenic
NM_000137.4(FAH):c.910A>T (p.Lys304Ter) single nucleotide variant Tyrosinemia type I [RCV001264278] Chr15:80175088 [GRCh38]
Chr15:80467430 [GRCh37]
Chr15:15q25.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3579 AgrOrtholog
COSMIC FAH COSMIC
Ensembl Genes ENSG00000103876 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261755 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385080 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000453152 UniProtKB/TrEMBL
  ENSP00000453347 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000454952 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261755 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000407106 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000558022 UniProtKB/TrEMBL
  ENST00000561353 UniProtKB/TrEMBL
  ENST00000561421 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.30.230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.850.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103876 GTEx
HGNC ID HGNC:3579 ENTREZGENE
Human Proteome Map FAH Human Proteome Map
InterPro Fumarylacetoacetase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fumarylacetoacetase-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fumarylacetoacetase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fumarylacetoacetase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fumarylacetoacetase_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2184 ENTREZGENE
OMIM 276700 OMIM
  613871 OMIM
PANTHER PTHR43069 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAA_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAA_hydrolase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27977 PharmGKB
Superfamily-SCOP SSF56529 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63433 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs fum_ac_acetase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.73875 ENTREZGENE
UniProt A0A384P5L6_HUMAN UniProtKB/TrEMBL
  FAAA_HUMAN UniProtKB/Swiss-Prot
  H0YLC7_HUMAN UniProtKB/TrEMBL
  H3BNP8_HUMAN UniProtKB/TrEMBL
  P16930 ENTREZGENE
UniProt Secondary B2R9X1 UniProtKB/Swiss-Prot
  D3DW95 UniProtKB/Swiss-Prot
  Q53XA7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 FAH  fumarylacetoacetate hydrolase    fumarylacetoacetate hydrolase (fumarylacetoacetase)  Symbol and/or name change 5135510 APPROVED
2011-08-16 FAH  fumarylacetoacetate hydrolase (fumarylacetoacetase)  FAH  fumarylacetoacetate hydrolase (fumarylacetoacetase)  Symbol and/or name change 5135510 APPROVED