RGD:11658146 Rat Genome Database

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Variant: RGD:11658146 -  Homo sapiens

RGD ID: 11658146
RS ID: rs886060976
ClinVar ID: CV305548
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCM2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 10,873,511
GRCh38 6 10,873,278
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
NM_004752.4:c.*717C>T
NG_008970.1:g.13588C>T
NC_000006.12:g.10873278G>A
NC_000006.11:g.10873511G>A
More... 		01/13/2018 3 prime utr variant uncertain significance all ages <1 / 1 000 000 Familial isolated hypoparathyroidism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GCM2
Accession:NM_004752
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000346694 CLINVAR
dbSNP (RS) rs886060976 CLINVAR
MedGen C1832648 CLINVAR
NCBI Gene GCM2 CLINVAR
OMIM 603716 CLINVAR