RGD:13532466 Rat Genome Database

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Variant: RGD:13532466 -  Homo sapiens

RGD ID: 13532466
RS ID: rs1557053262
ClinVar ID: CV512608
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 152,994,867
GRCh38 X 153,729,412
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000024.2:p.Asp361Asn
NG_009022.2:g.9545G>A
NC_000023.10:g.152994867G>A
LRG_1017:g.9545G>A
More... 		08/24/2017 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCD1
Accession:XM_047441917
Location:INTRON

Gene Symbol:ABCD1
Accession:NM_000033
Location:INTRON

Gene Symbol:ABCD1
Accession:XM_047441916
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000624230 CLINVAR
dbSNP (RS) rs1557053262 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ABCD1 CLINVAR
OMIM 300371 CLINVAR