RGD:150337755 Rat Genome Database

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Variant: RGD:150337755 -  Homo sapiens

RGD ID: 150337755
RS ID: rs1943786459
ClinVar ID: CV1166582
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: A2ML1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 9,001,315
GRCh38 12 8,848,719
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_144670.6:c.1834-1G>T
NC_000012.12:g.8848719G>T
NC_000012.11:g.9001315G>T
NM_144670.5:c.1834-1G>T
More... 		06/28/2021 splice acceptor variant uncertain significance AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View
otitis media  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:A2ML1
Accession:NM_144670
Location:INTRON

Gene Symbol:A2ML1
Accession:NM_001282424
Location:INTRON

Gene Symbol:A2ML1
Accession:XM_011520566
Location:INTRON

Gene Symbol:A2ML1
Accession:XM_011520567
Location:INTRON

Gene Symbol:A2ML1
Accession:XM_017018869
Location:INTRON

Gene Symbol:A2ML1
Accession:XM_017018870
Location:INTRON

Gene Symbol:A2ML1
Accession:XM_047428387
Location:INTRON

Gene Symbol:A2ML1
Accession:XR_931275
Location:INTRON;NON-CODING

Gene Symbol:A2ML1
Accession:XR_001748594
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001532894 CLINVAR
  RCV003394116 CLINVAR
dbSNP (RS) rs1943786459 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene A2ML1 CLINVAR
OMIM 610627 CLINVAR