RGD:11665913 Rat Genome Database

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Variant: RGD:11665913 -  Homo sapiens

RGD ID: 11665913
RS ID: rs16980189
ClinVar ID: CV352979
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POF1B  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 84,532,996
GRCh38 X 85,277,990
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024921.4:c.*1431A>C
NG_016358.1:g.106753A>C
NC_000023.11:g.85277990T>G
NC_000023.10:g.84532996T>G
More... 		06/14/2016 3 prime utr variant benign Mental retardation, nonsyndromic, X-linked
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POF1B
Accession:NM_024921
Location:3UTRS;EXON

Gene Symbol:POF1B
Accession:XM_005262203
Location:3UTRS;EXON

Gene Symbol:POF1B
Accession:NM_001307940
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000302162 CLINVAR
  RCV000384275 CLINVAR
dbSNP (RS) rs16980189 CLINVAR
MedGen C1845105 CLINVAR
  C3501611 CLINVAR
NCBI Gene POF1B CLINVAR
  ZNF711 CLINVAR
OMIM 300603 CLINVAR
  300604 CLINVAR
  314990 CLINVAR