RGD:28899390 Rat Genome Database

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Variant: RGD:28899390 -  Homo sapiens

RGD ID: 28899390
RS ID: rs747722915
ClinVar ID: CV886967
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL18A1  SLC19A1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 46,932,325
GRCh38 21 45,512,411
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_030582.4:c.*13T>A
NM_130444.3:c.*13T>A
NG_011903.1:g.112220T>A
NG_028278.2:g.55733A>T
More... 		04/27/2017 3 prime utr variant uncertain significance Myopia retinal detachment encephalocele; RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL18A1
Accession:NM_030582
Location:3UTRS;EXON

Gene Symbol:COL18A1
Accession:NM_130444
Location:3UTRS;EXON

Gene Symbol:COL18A1
Accession:NM_001379500
Location:3UTRS;EXON

Gene Symbol:SLC19A1
Accession:NM_001205207
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529700
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_001205206
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_017028443
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_001352512
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440955
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440965
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440963
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529702
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440954
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529696
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440958
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440956
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529703
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_001352511
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440957
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440961
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_194255
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529698
Location:INTRON

Gene Symbol:SLC19A1
Accession:NM_001352510
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440960
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440959
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440964
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_047440962
Location:INTRON

Gene Symbol:SLC19A1
Accession:XM_011529706
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001142340 CLINVAR
dbSNP (RS) rs747722915 CLINVAR
MedGen C1849409 CLINVAR
NCBI Gene COL18A1 CLINVAR
  SLC19A1 CLINVAR
OMIM 120328 CLINVAR
  267750 CLINVAR
  600424 CLINVAR