RGD:14699085 Rat Genome Database

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Variant: RGD:14699085 -  Homo sapiens

RGD ID: 14699085
RS ID: rs151000405
ClinVar ID: CV624696
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADA2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 17,690,574
GRCh38 22 17,209,684
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282225.2:c.-7C>G
NG_033943.1:g.17171C>G
NC_000022.11:g.17209684G>C
NC_000022.10:g.17690574G>C
More... 		07/19/2017 5 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ADA2
Accession:XM_047441406
Location:5UTRS;EXON

Gene Symbol:ADA2
Accession:XM_011546133
Location:5UTRS;EXON

Gene Symbol:ADA2
Accession:NM_001282226
Location:5UTRS;EXON

Gene Symbol:ADA2
Accession:NM_001282225
Location:5UTRS;EXON

Gene Symbol:ADA2
Accession:NM_001282229
Location:5UTRS;INTRON

Gene Symbol:ADA2
Accession:NM_001282228
Location:5UTRS;INTRON

Gene Symbol:ADA2
Accession:NM_001282227
Location:5UTRS;INTRON

Gene Symbol:ADA2
Accession:XM_047441407
Location:INTRON

Gene Symbol:ADA2
Accession:NM_177405
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000788292 CLINVAR
dbSNP (RS) rs151000405 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ADA2 CLINVAR
OMIM 607575 CLINVAR