rs1554107817 Rat Genome Database

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Variant: rs1554107817 -  Homo sapiens

RGD ID: 13530553
RS ID: rs1554107817
ClinVar ID: CV501393
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GABRB2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 160,973,320
GRCh38 5 161,546,314
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_021911.2:c.169+8G>T
NC_000005.9:g.160973320C>A
NM_000813.3:c.169+8G>T
NM_021911.3:c.169+8G>T
More... 		04/03/2017 intron variant likely benign AllHighlyPenetrant

Gene Symbol:GABRB2
Accession:NM_021911
Location:INTRON

Gene Symbol:GABRB2
Accession:NM_000813
Location:INTRON

Gene Symbol:GABRB2
Accession:NM_001371727
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV000606167 CLINVAR
dbSNP (RS) rs1554107817 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene GABRB2 CLINVAR
OMIM 600232 CLINVAR