RGD:13215358 Rat Genome Database

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Variant: RGD:13215358 -  Homo sapiens

RGD ID: 13215358
RS ID: rs769550316
ClinVar ID: CV431016
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 80,465,358
GRCh38 15 80,173,016
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_000137.3:c.709C>T
NG_012833.1:g.25018C>T
NC_000015.10:g.80173016C>T
NC_000015.9:g.80465358C>T
More... 		05/07/2020 nonsense pathogenic all ages 1-9 / 1 000 000 Deficiency of fumarylacetoacetase; FAH deficiency; Fumarylacetoacetase deficiency; Hepatorenal tyrosinemia; none provided; Tyrosinemia type 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FAH
Accession:NM_001374380
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQDVFNQPTLNSFMGLGQAAWKE
ARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYH
GRASSVVVSGTPIRRPMGQMKPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSA*DIQ
KWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLSVNLKGEGMSQAATICKSNFK
YMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFGSMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDG
YRIGFGQCAGKVLPALLPS*

Gene Symbol:FAH
Accession:NM_001374377
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQDVFNQPTLNSFMGLGQAAWKE
ARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYH
GRASSVVVSGTPIRRPMGQMKPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSA*DIQ
KWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLSVNLKGEGMSQAATICKSNFK
YMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFGSMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDG
YRIGFGQCAGKVLPALLPS*

Gene Symbol:FAH
Accession:NM_000137
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQDVFNQPTLNSFMGLGQAAWKE
ARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYH
GRASSVVVSGTPIRRPMGQMKPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSA*DIQ
KWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLSVNLKGEGMSQAATICKSNFK
YMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFGSMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDG
YRIGFGQCAGKVLPALLPS*
Variant Samples
Additional References at PubMed
PMID:8557261   PMID:9101289   PMID:9633815   PMID:22145516   PMID:25741868   PMID:25741915   PMID:27093575   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000502414 CLINVAR
  RCV001805120 CLINVAR
dbSNP (RS) rs769550316 CLINVAR
MedGen C0268490 CLINVAR
  C3661900 CLINVAR
NCBI Gene FAH CLINVAR
OMIM 276700 CLINVAR
  613871 CLINVAR
SNOMED CT 410056006 CLINVAR