RGD:11597997 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:11597997 -  Homo sapiens

RGD ID: 11597997
RS ID: rs61734276
ClinVar ID: CV298713
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCM2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 10,876,244
GRCh38 6 10,876,011
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.10855G>A
NC_000006.12:g.10876011C>T
NC_000006.11:g.10876244C>T
NP_004743.1:p.Lys154=
More...
05/04/2021 synonymous variant benign|likely benign 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:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAAAVQEAVGVCSYGMQLSWDINDPQMPQELALFDQFREWPDGYVRFIYSSDEKKAQRHLSGWAMRNTNNHNGHILKKS
CLGVVVCTQACTLPDGSRLQLRPAICDKARLKQQKKACPNCHSALELIPCRGHSGYPVTNFWRLDGNAIFFQAKGVHDHP
RPESKSETEARRSAIKRQMASFYQPQKKRIRESEAEENQDSSGHFSNIPPLENPEDFDIVTETSFPIPGQPCPSFPKSDV
YKATCDLATFQGDKMPPFQKYSSPRIYLPRPPCSYELANPGYTNSSPYPTLYKDSTSIPNDTDWVHLNTLQCNVNSYSSY
ERSFDFTNKQHGWKPALGKPSLVERTNHGQFQAMATRPYYNPELPCRYLTTPPPGAPALQTVITTTTKVSYQAYQPPAMK
YSDSVREVKSLSSCNYAPEDTGMSVYPEPWGPPVTVTRAASPSGPPPMKIAGDCRAIRPTVAIPHEPVSSRTDEAETWDV
CLSGLGSAVSYSDRVGPFFTYNNEDF*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000399943 CLINVAR
  RCV000946914 CLINVAR
dbSNP (RS) rs61734276 CLINVAR
MedGen C1832648 CLINVAR
  C3661900 CLINVAR
NCBI Gene GCM2 CLINVAR
OMIM 603716 CLINVAR