RGD:28867921 Rat Genome Database

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Variant: RGD:28867921 -  Homo sapiens

RGD ID: 28867921
RS ID: rs1453421086
ClinVar ID: CV872099
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPHN  RDH12  ZFYVE26  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 68,200,795
GRCh38 14 67,734,078
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152443.3:c.*230A>C
NG_008321.1:g.37193A>C
NC_000014.9:g.67734078A>C
NC_000014.8:g.68200795A>C
More... 		01/12/2018 3 prime utr variant uncertain significance Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RDH12
Accession:XM_047430965
Location:3UTRS;EXON

Gene Symbol:RDH12
Accession:NM_152443
Location:3UTRS;EXON

Gene Symbol:GPHN
Accession:XM_011536345
Location:INTRON

Gene Symbol:GPHN
Accession:NM_020806
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536344
Location:INTRON

Gene Symbol:ZFYVE26
Accession:NM_015346
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536342
Location:INTRON

Gene Symbol:ZFYVE26
Accession:XM_011536609
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001024218
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020913
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020918
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377516
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020914
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377517
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536343
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377514
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020917
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430878
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430877
Location:INTRON

Gene Symbol:ZFYVE26
Accession:XM_047431175
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430879
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430875
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430880
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536340
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377515
Location:INTRON

Gene Symbol:ZFYVE26
Accession:XM_047431173
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430876
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377519
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377518
Location:INTRON

Gene Symbol:ZFYVE26
Accession:XM_047431174
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001112132 CLINVAR
dbSNP (RS) rs1453421086 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene GPHN CLINVAR
  RDH12 CLINVAR
  ZFYVE26 CLINVAR
OMIM 268000 CLINVAR
  603930 CLINVAR
  608830 CLINVAR
  612012 CLINVAR
SNOMED CT 28835009 CLINVAR