RGD:13212739 Rat Genome Database

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Variant: RGD:13212739 -  Homo sapiens

RGD ID: 13212739
RS ID: rs1555514089
ClinVar ID: CV426995
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCC6  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 16,281,070
GRCh38 16 16,187,213
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.16187213T>C
NC_000016.9:g.16281070T>C
NM_001171.5:c.1780-2A>G
NM_001351800.1:c.1438-2A>G
More... 		02/16/2021 splice acceptor variant pathogenic|uncertain significance all ages 1-9 / 100 000 Gronblad Strandberg syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCC6
Accession:NM_001171
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

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_001079528
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000499206 CLINVAR
dbSNP (RS) rs1555514089 CLINVAR
MedGen C1275116 CLINVAR
NCBI Gene ABCC6 CLINVAR
OMIM 264800 CLINVAR
  603234 CLINVAR