RGD:11665332 Rat Genome Database

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Variant: RGD:11665332 -  Homo sapiens

RGD ID: 11665332
RS ID: rs16980188
ClinVar ID: CV352978
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POF1B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 84,532,801
GRCh38 X 85,277,795
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016358.1:g.106948G>A
NC_000023.11:g.85277795C>T
NC_000023.10:g.84532801C>T
NM_024921.3:c.*1626G>A
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 RCV000265713 CLINVAR
  RCV000327426 CLINVAR
dbSNP (RS) rs16980188 CLINVAR
MedGen C1845105 CLINVAR
  C3501611 CLINVAR
NCBI Gene POF1B CLINVAR
  ZNF711 CLINVAR
OMIM 300603 CLINVAR
  300604 CLINVAR
  314990 CLINVAR