RGD:12843765 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:12843765 -  Homo sapiens

RGD ID: 12843765
RS ID: rs202160072
ClinVar ID: CV374008
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDHA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 18,422,424
GRCh38 11 18,400,877
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005566.4:c.285G>A
NG_008185.1:g.11443G>A
NC_000011.10:g.18400877G>A
NC_000011.9:g.18422424G>A
More...
03/30/2023 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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_005566
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALVDVIEDKLKGEMMDLQHGSLFLRTPKIVSG
KDYNVTANSKLVIITAGARQQEGESRLNLVQRNVNIFKFIIPNVVKYSPNCKLLIVSNPVDILTYVAWKISGFPKNRVIG
SGCNLDSARFRYLMGERLGVHPLSCHGWVLGEHGDSSVPVWSGMNVAGVSLKTLHPDLGTDKDKEQWKEVHKQVVESAYE
VIKLKGYTSWAIGLSVADLAESIMKNLRRVHPVSTMIKGLYGIKDDVFLSVPCILGQNGISDLVKVTLTSEEEARLKKSA
DTLWGIQKELQF*

Gene Symbol:LDHA
Accession:NM_001165416
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALVDVIEDKLKGEMMDLQHGSLFLRTPKIVSG
KDYNVTANSKLVIITAGARQQEGESRLNLVQRNVNIFKFIIPNVVKYSPNCKLLIVSNPVDILTYVAWKISGFPKNRVIG
SGCNLDSARFRYLMGERLGVHPLSCHGWVLGEHGDSSVPVWSGMNVAGVSLKTLHPDLGTDKDKEQWKEVHKQVVERVFT
E*

Gene Symbol:LDHA
Accession:NM_001165415
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALVDVIEDKLKGEMMDLQHGSLFLRTPKIVSG
KDYNVTANSKLVIITAGARQQEGESRLNLVQRNVNIFKFIIPNVVKYSPNCKLLIVSNPVDILTYVAWKISGFPKNRVIG
SGCNLDSARFRYLMGERLGVHPLSCHGWVLGEHGDSSVPVWSGMNVAGVSLKTLHPDLGTDKDKEQWKECRYTLGDPKGA
AILKSSDVISFHCLGYNRILGGGCACCPFYLICD*

Gene Symbol:LDHA
Accession:NM_001165414
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEPSGGYTYTQTSIFLFHAKIPFGSKSNMATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALV
DVIEDKLKGEMMDLQHGSLFLRTPKIVSGKDYNVTANSKLVIITAGARQQEGESRLNLVQRNVNIFKFIIPNVVKYSPNC
KLLIVSNPVDILTYVAWKISGFPKNRVIGSGCNLDSARFRYLMGERLGVHPLSCHGWVLGEHGDSSVPVWSGMNVAGVSL
KTLHPDLGTDKDKEQWKEVHKQVVESAYEVIKLKGYTSWAIGLSVADLAESIMKNLRRVHPVSTMIKGLYGIKDDVFLSV
PCILGQNGISDLVKVTLTSEEEARLKKSADTLWGIQKELQF*

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

Gene Symbol:LDHA
Accession:NM_001135239
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000436813 CLINVAR
  RCV001107661 CLINVAR
dbSNP (RS) rs202160072 CLINVAR
MedGen C2931743 CLINVAR
  CN169374 CLINVAR
NCBI Gene LDHA CLINVAR
OMIM 150000 CLINVAR
  612933 CLINVAR