RGD:15168223 Rat Genome Database

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Variant: RGD:15168223 -  Homo sapiens

RGD ID: 15168223
RS ID: rs116311901
ClinVar ID: CV779456
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADAM12  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 127,728,005
GRCh38 10 126,039,436
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001288973.2:c.2105-7G>C
NM_003474.6:c.2114-7G>C
NG_029050.1:g.354123G>C
NC_000010.11:g.126039436C>G
More... 		03/01/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ADAM12
Accession:NM_003474
Location:INTRON

Gene Symbol:ADAM12
Accession:NM_021641
Location:INTRON

Gene Symbol:ADAM12
Accession:NM_001288973
Location:INTRON

Gene Symbol:ADAM12
Accession:NM_001288975
Location:INTRON

Gene Symbol:ADAM12
Accession:NM_001288974
Location:INTRON

Gene Symbol:ADAM12
Accession:XM_017016706
Location:INTRON

Gene Symbol:ADAM12
Accession:XM_024448210
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000971570 CLINVAR
dbSNP (RS) rs116311901 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ADAM12 CLINVAR
OMIM 602714 CLINVAR