RGD:8562371 Rat Genome Database

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Variant: RGD:8562371 -  Homo sapiens

RGD ID: 8562371
RS ID: rs869320666
ClinVar ID: CV26364
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TIMM8A  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 100,601,671
GRCh38 X 101,346,683
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
NG_011734.1:g.7287A>C
NC_000023.11:g.101346683T>G
NC_000023.10:g.100601671T>G
NM_001145951.2:c.*1704A>C
More... 		10/03/2012 3 prime utr variant|intron variant pathogenic childhood <1 / 1 000 000 DDON syndrome; Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency; Deafness-dystonia-optic atrophy syndrome; Deafness-dystonia-optic neuronopathy (DDON) syndrome; Deafness-Dystonia-Optic Neuronopathy Syndrome; DYSTONIA-DEAFNESS SYNDROME, X-LINKED; JENSEN SYNDROME; Mohr-Tranebjaerg syndrome; Nerve deafness optic nerve atrophy, and dementia; OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA; Opticoacustic nerve atrophy with dementia; Syndrome of opticoacoustic nerve atrophy with dementia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TIMM8A
Accession:NM_001145951
Location:3UTRS;EXON

Gene Symbol:TIMM8A
Accession:NM_004085
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15710860  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012077 CLINVAR
dbSNP (RS) rs869320666 CLINVAR
MedGen C0796074 CLINVAR
NCBI Gene TIMM8A CLINVAR
OMIM 300356 CLINVAR
  304700 CLINVAR
OMIM Allele 300356.0008 CLINVAR