RGD:11655627 Rat Genome Database

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Variant: RGD:11655627 -  Homo sapiens

RGD ID: 11655627
RS ID: rs886048089
ClinVar ID: CV319686
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDHA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 18,429,003
GRCh38 11 18,407,456
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008185.1:g.18022C>T
NC_000011.10:g.18407456C>T
NC_000011.9:g.18429003C>T
NM_001165414.2:c.*175C>T
More... 		06/14/2016 3 prime utr variant uncertain significance childhood 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_001165415
Location:3UTRS;EXON

Gene Symbol:LDHA
Accession:NM_001165414
Location:3UTRS;EXON

Gene Symbol:LDHA
Accession:NM_001135239
Location:3UTRS;EXON

Gene Symbol:LDHA
Accession:NM_005566
Location:3UTRS;EXON

Gene Symbol:LDHA
Accession:NM_001165416
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000327223 CLINVAR
dbSNP (RS) rs886048089 CLINVAR
MedGen C2931743 CLINVAR
NCBI Gene LDHA CLINVAR
OMIM 150000 CLINVAR
  612933 CLINVAR