RGD:14711995 Rat Genome Database

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Variant: RGD:14711995 -  Homo sapiens

RGD ID: 14711995
RS ID: rs747289673
ClinVar ID: CV653620
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLA2G6  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 38,541,442
GRCh38 22 38,145,435
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001349867.2:c.-110+3G>T
NM_001199562.3:c.425+3G>T
NM_001349864.2:c.425+3G>T
NM_001349869.2:c.-110+3G>T
More... 		11/30/2018 intron variant uncertain significance Infantile neuroaxonal dystrophy 1; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; Seitelberger disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLA2G6
Accession:NM_001349867
Location:5UTRS;INTRON

Gene Symbol:PLA2G6
Accession:NM_001349868
Location:5UTRS;INTRON

Gene Symbol:PLA2G6
Accession:NM_001349869
Location:5UTRS;INTRON

Gene Symbol:PLA2G6
Accession:NM_001004426
Location:INTRON

Gene Symbol:PLA2G6
Accession:NM_001199562
Location:INTRON

Gene Symbol:PLA2G6
Accession:NM_001349864
Location:INTRON

Gene Symbol:PLA2G6
Accession:NM_003560
Location:INTRON

Gene Symbol:PLA2G6
Accession:NM_001349865
Location:INTRON

Gene Symbol:PLA2G6
Accession:NM_001349866
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000819428 CLINVAR
  RCV002535506 CLINVAR
dbSNP (RS) rs747289673 CLINVAR
MedGen C0270724 CLINVAR
  C0950123 CLINVAR
NCBI Gene PLA2G6 CLINVAR
OMIM 256600 CLINVAR
  603604 CLINVAR
SNOMED CT 52713000 CLINVAR