rs41278182 Rat Genome Database

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Variant: rs41278182 -  Homo sapiens

RGD ID: 153000008
RS ID: rs41278182
ClinVar ID: CV1683571
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCC6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 16,278,948
GRCh38 16 16,185,091
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001351800.1:c.1526-57G>A
NM_001171.6:c.1868-57G>A
LRG_1115:g.43527G>A
NG_007558.3:g.43527G>A
More... 		12/05/2021 intron variant benign Gronblad Strandberg syndrome; none provided; PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS; Pseudoxanthoma Elasticum, Incomplete
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:
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:ABCC6
Accession:NM_001351800
Location:INTRON

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

Gene Symbol:
Accession:
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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002254023 CLINVAR
  RCV002254024 CLINVAR
  RCV002254025 CLINVAR
  RCV004716901 CLINVAR
dbSNP (RS) rs41278182 CLINVAR
MedGen C1275116 CLINVAR
  C1867450 CLINVAR
  C3276161 CLINVAR
  C3661900 CLINVAR
NCBI Gene ABCC6 CLINVAR
OMIM 177850 CLINVAR
  264800 CLINVAR
  603234 CLINVAR
  614473 CLINVAR