RGD:11629537 Rat Genome Database

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Variant: RGD:11629537 -  Homo sapiens

RGD ID: 11629537
RS ID: rs11578
ClinVar ID: CV350266
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STX16  STX16-NPEPL1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 57,253,275
GRCh38 20 58,678,219
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.31948C>T
NC_000020.11:g.58678219C>T
NC_000020.10:g.57253275C>T
NM_001134773.3:c.*1928C>T
More...
06/14/2016 3 prime utr variant benign PHP IB; Pseudohypoparathyroidism Type IB
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STX16
Accession:NM_001001433
Location:3UTRS;EXON

Gene Symbol:STX16
Accession:NM_001134772
Location:3UTRS;EXON

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

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

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

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

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

Gene Symbol:STX16
Accession:NR_037943
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 RCV000325558 CLINVAR
dbSNP (RS) rs11578 CLINVAR
MedGen C1864100 CLINVAR
NCBI Gene STX16 CLINVAR
  STX16-NPEPL1 CLINVAR
OMIM 603233 CLINVAR
  603666 CLINVAR