RGD:11582310 Rat Genome Database

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Variant: RGD:11582310 -  Homo sapiens

RGD ID: 11582310
RS ID: rs79328219
ClinVar ID: CV280791
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC30A10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 220,101,133
GRCh38 1 219,927,791
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
NC_000001.11:g.219927791C>T
NC_000001.10:g.220101133C>T
NM_018713.2:c.640+10G>A
NG_032153.2:g.5861G>A
More... 		12/04/2020 intron variant benign|likely benign|uncertain significance childhood <1 / 1 000 000 Cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Hepatic Cirrhosis, Dystonia, Polycythemia and Hypermanganesemia; Hypermanganesemia with dystonia 1; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC30A10
Accession:NM_001416005
Location:5UTRS;INTRON

Gene Symbol:SLC30A10
Accession:NM_001416004
Location:INTRON

Gene Symbol:SLC30A10
Accession:NM_018713
Location:INTRON

Gene Symbol:SLC30A10
Accession:NM_001376929
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000407335 CLINVAR
  RCV001521206 CLINVAR
dbSNP (RS) rs79328219 CLINVAR
MedGen C2750442 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC30A10 CLINVAR
OMIM 611146 CLINVAR
  613280 CLINVAR
SNOMED CT 702377007 CLINVAR