RGD:28889771 Rat Genome Database

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Variant: RGD:28889771 -  Homo sapiens

RGD ID: 28889771
RS ID: rs773370448
ClinVar ID: CV863916
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B3GALNT2  TBCE  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 235,612,094
GRCh38 1 235,448,779
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001079515.3:c.*17T>C
NC_000001.10:g.235612094T>C
NM_003193.3:c.*17T>C
NM_001287802.2:c.*17T>C
More... 		01/13/2018 3 prime utr variant uncertain significance HRD syndrome; Hypoparathyroidism with short stature, mental retardation and seizures; Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay; Sanjad-Sakati syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TBCE
Accession:NM_001287801
Location:3UTRS;EXON

Gene Symbol:TBCE
Accession:NM_001079515
Location:3UTRS;EXON

Gene Symbol:TBCE
Accession:NM_001287802
Location:3UTRS;EXON

Gene Symbol:TBCE
Accession:NM_003193
Location:3UTRS;EXON

Gene Symbol:B3GALNT2
Accession:NM_152490
Location:3UTRS;EXON

Gene Symbol:B3GALNT2
Accession:XM_017000394
Location:3UTRS;EXON

Gene Symbol:B3GALNT2
Accession:XM_047447005
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_006711749
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447002
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447003
Location:INTRON

Gene Symbol:B3GALNT2
Accession:XM_047447004
Location:INTRON

Gene Symbol:B3GALNT2
Accession:NM_001277155
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001099551 CLINVAR
dbSNP (RS) rs773370448 CLINVAR
MedGen C1855840 CLINVAR
NCBI Gene B3GALNT2 CLINVAR
  TBCE CLINVAR
OMIM 241410 CLINVAR
  604934 CLINVAR
  610194 CLINVAR