RGD:11644790 Rat Genome Database

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Variant: RGD:11644790 -  Homo sapiens

RGD ID: 11644790
ClinVar ID: CV338719
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GFAP  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 42,983,165
GRCh38 17 44,905,797
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008401.1:g.14750C>A
NC_000017.11:g.44905797G>T
NC_000017.10:g.42983165G>T
NM_001363846.1:c.*1550C>A
More... 		06/14/2016 3 prime utr variant likely benign all ages <1 / 1 000 000 Alexander's disease; Alexanders leukodystrophy; Megalencephaly in infancy accompanied by progressive spasticity and dementia

Variant Details
Variant Transcripts
Gene Symbol:GFAP
Accession:NM_001363846
Location:3UTRS;EXON

Gene Symbol:GFAP
Accession:NM_002055
Location:3UTRS;EXON

Gene Symbol:GFAP
Accession:NM_001242376
Location:INTRON

Gene Symbol:GFAP
Accession:NM_001131019
Location:INTRON

Variant Samples