RGD:13212695 Rat Genome Database

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Variant: RGD:13212695 -  Homo sapiens

RGD ID: 13212695
RS ID: rs63750700
ClinVar ID: CV426802
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCC6  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 16,244,629
GRCh38 16 16,150,772
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
NM_001351800.1:c.3867C>A
NC_000016.10:g.16150772G>T
NC_000016.9:g.16244629G>T
NP_001162.4:p.Ser1403Arg
More... 		03/01/2021 missense variant pathogenic 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:ABCC6
Accession:NM_001351800
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
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

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:15723264   PMID:32873932  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000499150 CLINVAR
dbSNP (RS) rs63750700 CLINVAR
MedGen C1275116 CLINVAR
NCBI Gene ABCC6 CLINVAR
OMIM 264800 CLINVAR
  603234 CLINVAR