RGD:28884930 Rat Genome Database

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Variant: RGD:28884930 -  Homo sapiens

RGD ID: 28884930
RS ID: rs187525386
ClinVar ID: CV902956
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAP3K15  PDHA1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 19,378,320
GRCh38 X 19,360,202
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000284.4:c.*549A>G
NG_021184.1:g.160060T>C
NG_016781.1:g.21310A>G
NC_000023.11:g.19360202A>G
More... 		12/01/2022 3 prime utr variant likely benign|uncertain significance ATAXIA WITH LACTIC ACIDOSIS I; ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM; ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY; Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency; none provided; X-linked Leigh syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PDHA1
Accession:NM_000284
Location:3UTRS;EXON

Gene Symbol:MAP3K15
Accession:XM_011545508
Location:3UTRS;EXON

Gene Symbol:PDHA1
Accession:NM_001173454
Location:3UTRS;EXON

Gene Symbol:MAP3K15
Accession:NM_001001671
Location:3UTRS;EXON

Gene Symbol:MAP3K15
Accession:XM_011545507
Location:3UTRS;EXON

Gene Symbol:MAP3K15
Accession:XM_011545510
Location:3UTRS;EXON

Gene Symbol:PDHA1
Accession:NM_001173456
Location:3UTRS;EXON

Gene Symbol:MAP3K15
Accession:XM_011545511
Location:3UTRS;EXON

Gene Symbol:PDHA1
Accession:NM_001173455
Location:3UTRS;EXON

Gene Symbol:PDHA1
Accession:XM_017029574
Location:3UTRS;EXON

Gene Symbol:MAP3K15
Accession:XM_047442100
Location:INTRON

Gene Symbol:MAP3K15
Accession:XR_007068188
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001168625 CLINVAR
  RCV002512142 CLINVAR
dbSNP (RS) rs187525386 CLINVAR
MedGen C1839413 CLINVAR
  C3661900 CLINVAR
NCBI Gene MAP3K15 CLINVAR
  PDHA1 CLINVAR
OMIM 300502 CLINVAR
  300820 CLINVAR
  312170 CLINVAR