RGD:127293359 Rat Genome Database

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Variant: RGD:127293359 -  Homo sapiens

RGD ID: 127293359
RS ID: rs750757769
ClinVar ID: CV1158497
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNA11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 3,121,012
GRCh38 19 3,121,014
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002067.5:c.915G>A
NC_000019.9:g.3121012G>A
NP_002058.2:p.Ala305=
LRG_1111p1:p.Ala305=
More... 		11/10/2021 synonymous variant benign|likely benign Autosomal dominant hypocalcemia 2; Familial benign hypercalcemia, type 2; FAMILIAL BENIGN HYPERCALCEMIA, TYPE II; Hypocalciuric hypercalcemia, familial, type II; Hypocalciuric hypercalcemia, type II; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNA11
Accession:NM_002067
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLESMMACCLSDEVKESKRINAEIEKQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGAGYSEEDKRGFTKLVY
QNIFTAMQAMIRAMETLKILYKYEQNKANALLIREVDVEKVTTFEHQYVSAIKTLWEDPGIQECYDRRREYQLSDSAKYY
LTDVDRIATLGYLPTQQDVLRVRVPTTGIIEYPFDLENIIFRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLV
ESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEDKILYSHLVDYFPEFDGPQRDAQAAREFILKMFVDLNPDS
DKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001511325 CLINVAR
  RCV002501760 CLINVAR
dbSNP (RS) rs750757769 CLINVAR
MedGen C1840347 CLINVAR
  C3661900 CLINVAR
NCBI Gene GNA11 CLINVAR
OMIM 139313 CLINVAR
  145981 CLINVAR
  615361 CLINVAR