RGD:41407270 Rat Genome Database

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Variant: RGD:41407270 -  Homo sapiens

RGD ID: 41407270
RS ID: rs1979807431
ClinVar ID: CV983341
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALOXE3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 8,012,662
GRCh38 17 8,109,344
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_015807.1:g.14573G>A
NC_000017.11:g.8109344C>T
NM_021628.2:c.1393-1G>A
NM_001369446.1:c.1390-1G>A
More... 		01/07/2021 splice acceptor variant pathogenic ICHTHYOSIS, LAMELLAR, 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALOXE3
Accession:XM_017024925
Location:INTRON

Gene Symbol:ALOXE3
Accession:XM_017024922
Location:INTRON

Gene Symbol:ALOXE3
Accession:XM_047436510
Location:INTRON

Gene Symbol:ALOXE3
Accession:XM_047436511
Location:INTRON

Gene Symbol:ALOXE3
Accession:NM_021628
Location:INTRON

Gene Symbol:ALOXE3
Accession:XM_017024921
Location:INTRON

Gene Symbol:ALOXE3
Accession:NM_001369446
Location:INTRON

Gene Symbol:ALOXE3
Accession:XM_017024924
Location:INTRON

Gene Symbol:ALOXE3
Accession:NM_001165960
Location:INTRON

Gene Symbol:ALOXE3
Accession:XM_017024923
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001289499 CLINVAR
dbSNP (RS) rs1979807431 CLINVAR
MedGen C3539888 CLINVAR
NCBI Gene ALOXE3 CLINVAR
OMIM 606545 CLINVAR
  607206 CLINVAR