RGD:14737990 Rat Genome Database

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Variant: RGD:14737990 -  Homo sapiens

RGD ID: 14737990
RS ID: rs200231542
ClinVar ID: CV670959
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLP1  RAB9B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 103,041,325
GRCh38 X 103,786,396
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001128834.3:c.192-69T>C
NM_000533.5:c.192-69T>C
NM_199478.3:c.192-69T>C
NM_001305004.1:c.27-69T>C
More... 		06/14/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PLP1
Accession:NM_199478
Location:INTRON

Gene Symbol:PLP1
Accession:NM_001128834
Location:INTRON

Gene Symbol:PLP1
Accession:NM_000533
Location:INTRON

Gene Symbol:PLP1
Accession:NM_001305004
Location:INTRON

Gene Symbol:RAB9B
Accession:NM_016370
Location:INTRON

Gene Symbol:RAB9B
Accession:NR_146558
Location:INTRON;NON-CODING

Gene Symbol:RAB9B
Accession:NR_146560
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000839174 CLINVAR
dbSNP (RS) rs200231542 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR