RGD:11609192 Rat Genome Database

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Variant: RGD:11609192 -  Homo sapiens

RGD ID: 11609192
RS ID: rs772701925
ClinVar ID: CV305685
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCM2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 10,881,925
GRCh38 6 10,881,692
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_008970.1:g.5174G>C
NC_000006.12:g.10881692C>G
NC_000006.11:g.10881925C>G
NM_004752.3:c.90+12G>C
More...
08/28/2022 intron variant likely benign|uncertain significance all ages <1 / 1 000 000 Familial isolated hypoparathyroidism; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GCM2
Accession:NM_004752
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000365034 CLINVAR
  RCV002523541 CLINVAR
dbSNP (RS) rs772701925 CLINVAR
MedGen C1832648 CLINVAR
  C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene GCM2 CLINVAR
OMIM 603716 CLINVAR