RGD:28908894 Rat Genome Database

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Variant: RGD:28908894 -  Homo sapiens

RGD ID: 28908894
RS ID: rs1783761584
ClinVar ID: CV897944
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HOXA1  LOC127408712  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 27,133,778
GRCh38 7 27,094,159
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005522.5:c.*281C>G
NM_153620.3:c.*672C>G
NG_033087.1:g.3066G>C
NG_011813.1:g.6848C>G
More... 		01/12/2018 3 prime utr variant uncertain significance Athabaskan brainstem dysgenesis; Athabaskan brainstem dysgenesis syndrome; Navajo brainstem syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HOXA1
Accession:NM_153620
Location:3UTRS;EXON

Gene Symbol:HOXA1
Accession:NM_005522
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001160321 CLINVAR
dbSNP (RS) rs1783761584 CLINVAR
MedGen C1832215 CLINVAR
NCBI Gene HOXA1 CLINVAR
OMIM 142955 CLINVAR
  601536 CLINVAR