RGD:10409496 Rat Genome Database

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Variant: RGD:10409496 -  Homo sapiens

RGD ID: 10409496
RS ID: rs863224148
ClinVar ID: CV212004
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDHA1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 19,368,151
GRCh38 X 19,350,033
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000284.3:c.214C>T
NG_016781.1:g.11141C>T
NC_000023.11:g.19350033C>T
NC_000023.10:g.19368151C>T
More...
10/25/2021 missense variant pathogenic|likely pathogenic Ataxia with lactic acidosis 1; 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; PDH DEFICIENCY; Pyruvate decarboxylase deficiency; Pyruvate Dehydrogenase Complex Deficiency Disease; Pyruvate dehydrogenase deficiency; X-linked Leigh syndrome
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PDHA1
Accession:NM_001173454
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKMLAAVSRVLSGASQKPRHGLATLPSLVSISRLKQSSHLGLPKCWDYSHSLKTRQASRVLVASRNFANDATFEIKKCD
LHRLEEGPPVTTVLTREDGLKYYRMMQTVCRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHG
FTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQG
QIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILM
ELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLE
ELGYHIYSSDPPFEVRGANQWIKFKSVS*

Gene Symbol:PDHA1
Accession:NM_001173455
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVCRMELKADQ
LYKQKIIRGFCHLCDGQFLLPLTQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSM
HMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSV
ERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSK
SDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS*

Gene Symbol:PDHA1
Accession:NM_000284
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVCRMELKADQ
LYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNF
YGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAAST
DYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLL
KDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS*

Gene Symbol:PDHA1
Accession:NM_001173456
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVCRMELKADQ
LYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNF
YGGNGIVGAQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAA
YCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQ
FATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS*

Gene Symbol:PDHA1
Accession:XM_017029574
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKMLAAVSRVLSGASQKPRHGLATLPSLVSISRLKQSSHLGLPKCWDYSHSLKTRQASRVLVASRNFANDATFEIKKCD
LHRLEEGPPVTTVLTREDGLKYYRMMQTVCRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHG
FTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQGQIFEAYNMAALWKLPCIFICENNRYGMGTSV
ERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSK
SDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVRGANQWIKFKSVS*

Variant Samples
Additional References at PubMed
PMID:1301207   PMID:7887409   PMID:10679936   PMID:15384102   PMID:15473177   PMID:20002125   PMID:25590979   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000505722 CLINVAR
  RCV000624128 CLINVAR
  RCV000692713 CLINVAR
  RCV001796727 CLINVAR
  RCV001814100 CLINVAR
dbSNP (RS) rs863224148 CLINVAR
MedGen C0034345 CLINVAR
  C0950123 CLINVAR
  C1839413 CLINVAR
  C3661900 CLINVAR
  C4023042 CLINVAR
NCBI Gene PDHA1 CLINVAR
OMIM 300502 CLINVAR
  312170 CLINVAR
SNOMED CT 46683007 CLINVAR