RGD:10410635 Rat Genome Database

Variant: RGD:10410635 - Homo sapiens

RGD ID:

10410635

RS ID:

rs863224147

ClinVar ID:

CV212019

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PDHA1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	19,377,730
GRCh38	X	19,359,612

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_016781.1:g.20720C>T NC_000023.11:g.19359612C>T NC_000023.10:g.19377730C>T NP_000275.1:p.Arg378Cys 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; Sudden Infant Death; X-linked Leigh syndrome

Disease Annotations Click to see Annotation Detail View

pyruvate decarboxylase deficiency (IAGP)

Pyruvate Dehydrogenase E1 Alpha Deficiency (IAGP)

sudden infant death syndrome (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Decreased activity of the pyruvate dehydrogenase complex (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PDHA1
Accession:	NM_001173456
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	347

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQ LYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNF YGGNGIVGAQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAA YCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQ FATADPEPPLEELGYHIYSSDPPFEVCGANQWIKFKSVS*

Gene Symbol:	PDHA1
Accession:	XM_017029574
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	385

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKMLAAVSRVLSGASQKPRHGLATLPSLVSISRLKQSSHLGLPKCWDYSHSLKTRQASRVLVASRNFANDATFEIKKCD LHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHG FTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQGQIFEAYNMAALWKLPCIFICENNRYGMGTSV ERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSK SDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVCGANQWIKFKSVS*

Gene Symbol:	PDHA1
Accession:	NM_001173455
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	385

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQ LYKQKIIRGFCHLCDGQFLLPLTQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSM HMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSV ERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSK SDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVCGANQWIKFKSVS*

Gene Symbol:	PDHA1
Accession:	NM_000284
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	378

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQ LYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNF YGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAAST DYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLL KDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLEELGYHIYSSDPPFEVCGANQWIKFKSVS*

Gene Symbol:	PDHA1
Accession:	NM_001173454
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	416

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKMLAAVSRVLSGASQKPRHGLATLPSLVSISRLKQSSHLGLPKCWDYSHSLKTRQASRVLVASRNFANDATFEIKKCD LHRLEEGPPVTTVLTREDGLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRAHG FTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALACKYNGKDEVCLTLYGDGAANQG QIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAASTDYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILM ELQTYRYHGHSMSDPGVSYRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPPLE ELGYHIYSSDPPFEVCGANQWIKFKSVS*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:8962591	PMID:20002125	PMID:20002461	PMID:24718837	PMID:25741868	PMID:28492532	PMID:28639102

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000198575	CLINVAR
	RCV000497402	CLINVAR
	RCV001788065	CLINVAR
	RCV001796726	CLINVAR
dbSNP (RS)	rs863224147	CLINVAR
MedGen	C0034345	CLINVAR
	C0038644	CLINVAR
	C1839413	CLINVAR
	C3661900	CLINVAR
NCBI Gene	PDHA1	CLINVAR
OMIM	272120	CLINVAR
	300502	CLINVAR
	312170	CLINVAR
SNOMED CT	46683007	CLINVAR
	51178009	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:10410635 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:10410635 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar