RGD:15124591 Rat Genome Database

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Variant: RGD:15124591 -  Homo sapiens

RGD ID: 15124591
RS ID: rs182873744
ClinVar ID: CV759977
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDHA  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 18,425,367
GRCh38 11 18,403,820
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001135239.2:c.536+9T>A
NM_001165415.2:c.687+32T>A
NM_005566.4:c.710+9T>A
NG_008185.1:g.14386T>A
More... 		12/19/2018 intron variant benign Glycogen storage disease XI; GSD XI; Lactate dehydrogenase deficiency type A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LDHA
Accession:NM_001135239
Location:INTRON

Gene Symbol:LDHA
Accession:NM_001165416
Location:INTRON

Gene Symbol:LDHA
Accession:NM_001165414
Location:INTRON

Gene Symbol:LDHA
Accession:NM_001165415
Location:INTRON

Gene Symbol:LDHA
Accession:NM_005566
Location:INTRON

Gene Symbol:LDHA
Accession:NR_028500
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001522506 CLINVAR
dbSNP (RS) rs182873744 CLINVAR
MedGen C2931743 CLINVAR
NCBI Gene LDHA CLINVAR
OMIM 150000 CLINVAR
  612933 CLINVAR