RGD:13212609 Rat Genome Database

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Variant: RGD:13212609 -  Homo sapiens

RGD ID: 13212609
RS ID: rs72664290
ClinVar ID: CV427065
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCC6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 16,308,158
GRCh38 16 16,214,301
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_000016.10:g.16214301G>A
NC_000016.9:g.16308158G>A
NM_001351800.1:c.258+23C>T
NG_007558.3:g.14317C>T
More... 		03/01/2021 intron variant pathogenic|benign|likely benign|conflicting interpretations of pathogenicity all ages 1-9 / 100 000 Gronblad Strandberg syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ABCC6
Accession:NM_001351800
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ABCC6
Accession:NM_001171
Location:INTRON

Gene Symbol:ABCC6
Accession:NM_001079528
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

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

Gene Symbol:ABCC6
Accession:NR_147784
Location:INTRON;NON-CODING

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

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

Variant Samples
Additional References at PubMed
PMID:16086317  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000499047 CLINVAR
  RCV002285344 CLINVAR
dbSNP (RS) rs72664290 CLINVAR
MedGen C1275116 CLINVAR
  C3661900 CLINVAR
NCBI Gene ABCC6 CLINVAR
OMIM 264800 CLINVAR
  603234 CLINVAR