RGD:11660228 Rat Genome Database

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Variant: RGD:11660228 -  Homo sapiens

RGD ID: 11660228
RS ID: rs886049902
ClinVar ID: CV327080
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HAL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 96,388,697
GRCh38 12 95,994,919
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_001258334.2:c.308+14C>T
NG_008180.1:g.6375C>T
NC_000012.12:g.95994919G>A
NC_000012.11:g.96388697G>A
More... 		06/14/2016 intron variant uncertain significance infancy 1-9 / 100 000 Deficiency of histidine ammonia-lyase; HAL deficiency; HIS deficiency; Histidase deficiency; Histidine ammonia-lyase deficiency; Hyperhistidinemia
Disease Annotations     Click to see Annotation Detail View
histidinemia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HAL
Accession:NM_001258333
Location:5UTRS;INTRON

Gene Symbol:HAL
Accession:XM_011538249
Location:INTRON

Gene Symbol:HAL
Accession:NM_002108
Location:INTRON

Gene Symbol:HAL
Accession:XM_017019246
Location:INTRON

Gene Symbol:HAL
Accession:NM_001258334
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000365030 CLINVAR
dbSNP (RS) rs886049902 CLINVAR
MedGen C0220992 CLINVAR
NCBI Gene HAL CLINVAR
OMIM 235800 CLINVAR
  609457 CLINVAR
SNOMED CT 410058007 CLINVAR