rs199942817 Rat Genome Database

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Variant: rs199942817 -  Homo sapiens

RGD ID: 11628161
RS ID: rs199942817
ClinVar ID: CV352114
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCD1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,009,670
GRCh38 X 153,744,216
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_009022.2:g.24349G>T
NC_000023.11:g.153744216G>T
NC_000023.10:g.153009670G>T
NM_000033.4:c.*481G>T
More... 		01/13/2018 3 prime utr variant uncertain significance 1/20,000 births in general population ADDISON DISEASE AND CEREBRAL SCLEROSIS; BRONZE SCHILDER DISEASE; MELANODERMIC LEUKODYSTROPHY; SIEMERLING-CREUTZFELDT DISEASE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCD1
Accession:NM_000033
Location:3UTRS;EXON

Gene Symbol:ABCD1
Accession:XM_047441916
Location:3UTRS;EXON

Gene Symbol:ABCD1
Accession:XM_047441917
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000296588 CLINVAR
dbSNP (RS) rs199942817 CLINVAR
MedGen C0162309 CLINVAR
NCBI Gene ABCD1 CLINVAR
OMIM 300100 CLINVAR
  300371 CLINVAR
SNOMED CT 65389002 CLINVAR