RGD:28877040 Rat Genome Database

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Variant: RGD:28877040 -  Homo sapiens

RGD ID: 28877040
RS ID: rs181070478
ClinVar ID: CV902937
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB39B  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 154,488,636
GRCh38 X 155,259,351
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_171998.2:c.*1452T>C
NM_171998.4:c.*1452T>C
NG_012626.2:g.10211T>C
NC_000023.11:g.155259351A>G
More... 		06/01/2023 3 prime utr variant likely benign|uncertain significance INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAB39B
Accession:NM_171998
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001166330 CLINVAR
  RCV003311953 CLINVAR
dbSNP (RS) rs181070478 CLINVAR
MedGen C1846038 CLINVAR
  C3661900 CLINVAR
NCBI Gene RAB39B CLINVAR
OMIM 300271 CLINVAR
  300774 CLINVAR