RGD:11647448 Rat Genome Database

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Variant: RGD:11647448 -  Homo sapiens

RGD ID: 11647448
RS ID: rs886056852
ClinVar ID: CV350257
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127893955  STX16  STX16-NPEPL1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 57,251,788
GRCh38 20 58,676,732
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011831.2:g.30461C>G
NC_000020.11:g.58676732C>G
NC_000020.10:g.57251788C>G
NM_001001433.3:c.*441C>G
More... 		06/14/2016 3 prime utr variant uncertain significance PHP IB; Pseudohypoparathyroidism Type IB
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STX16
Accession:NM_001134772
Location:3UTRS;EXON

Gene Symbol:STX16
Accession:NM_001134773
Location:3UTRS;EXON

Gene Symbol:STX16
Accession:NM_001001433
Location:3UTRS;EXON

Gene Symbol:STX16
Accession:NM_003763
Location:3UTRS;EXON

Gene Symbol:STX16
Accession:NM_001204868
Location:3UTRS;EXON

Gene Symbol:STX16
Accession:NR_037943
Location:EXON;NON-CODING

Gene Symbol:STX16
Accession:NR_037941
Location:EXON;NON-CODING

Gene Symbol:STX16
Accession:NR_037942
Location:EXON;NON-CODING

Gene Symbol:STX16-NPEPL1
Accession:NR_037945
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000276364 CLINVAR
dbSNP (RS) rs886056852 CLINVAR
MedGen C1864100 CLINVAR
NCBI Gene STX16 CLINVAR
  STX16-NPEPL1 CLINVAR
OMIM 603233 CLINVAR
  603666 CLINVAR