RGD:11592839 Rat Genome Database

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Variant: RGD:11592839 -  Homo sapiens

RGD ID: 11592839
RS ID: rs76751106
ClinVar ID: CV281796
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTH  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 70,905,199
GRCh38 1 70,439,516
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_001902.6:c.*389T>C
NM_001190463.2:c.*389T>C
NM_153742.5:c.*389T>C
NG_008041.1:g.33245T>C
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance all ages 1-9 / 100 000 CYSTATHIONASE DEFICIENCY; Gamma-cystathionase deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CTH
Accession:NM_153742
Location:3UTRS;EXON

Gene Symbol:CTH
Accession:XM_017000416
Location:3UTRS;EXON

Gene Symbol:CTH
Accession:NM_001902
Location:3UTRS;EXON

Gene Symbol:CTH
Accession:NM_001190463
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000343042 CLINVAR
dbSNP (RS) rs76751106 CLINVAR
MedGen C0220993 CLINVAR
NCBI Gene CTH CLINVAR
OMIM 219500 CLINVAR
  607657 CLINVAR
SNOMED CT 13003007 CLINVAR