rs750462706 Rat Genome Database

Advanced Search (OLGA)

Variant: rs750462706 - Homo sapiens

RGD ID:

11601820

RS ID:

rs750462706

ClinVar ID:

CV310721

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ALAD

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	9	116,152,734
GRCh38	9	113,390,454

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	Age of Onset	Prevalence	Trait Synonyms
NG_008716.1:g.15885G>A NC_000009.12:g.113390454C>T NC_000009.11:g.116152734C>T NP_000022.3:p.Arg174His More...	01/12/2018	missense variant	uncertain significance	adolescent	<1 / 1 000 000	ALAD DEFICIENCY; DELTA-AMINOLEVULINATE DEHYDRATASE DEFICIENCY; DOSS PORPHYRIA; Porphyria due to ALA dehydratase deficiency; Porphyria, acute hepatic; PORPHYRIA, ALAD

Disease Annotations Click to see Annotation Detail View

ALAD-Deficiency Porphyria (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Decreased delta-aminolevulinate dehydratase activity (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ALAD
Accession:	NM_001003945
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPTSSTPSLSRPGLGQAGKPDTGSHPPPTISTSIFLSCFPTIPLSRPRTTGPSHSYQSISHPRSCRDVPDDIQPITSLP GVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGH CGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGHVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDA AKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQA GAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE*

Gene Symbol:	ALAD
Accession:	XM_047422947
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	111

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRA EESRQRLAEVALAYAKAGCQVVAPSDMMDGHVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRC YQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEA MTAFRRAGADIIITYYTPQLLQWLKEE*

Gene Symbol:	ALAD
Accession:	XM_047422945
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	216

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNQLWTLPCRSSVYWHETEPAANAPGALGSNQLMPLCPLAHAMQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVT DVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVA CDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGHVEAIKEALMAHGLGNRVSVMSYSA KFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHV SGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE*

Gene Symbol:	ALAD
Accession:	XM_011518364
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	183

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLCPLAHAMQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSLPGVARYGVKRLEEMLRPLVEE GLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLA EVALAYAKAGCQVVAPSDMMDGHVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGAR GLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAG ADIIITYYTPQLLQWLKEE*

Gene Symbol:	ALAD
Accession:	NM_000031
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	174

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFG VPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKA GCQVVAPSDMMDGHVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDR DVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYT PQLLQWLKEE*

Gene Symbol:	ALAD
Accession:	XM_047422944
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	216

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNQLWTLPCRSSVYWHETEPAANAPGALGSNQLMPLCPLAHAMQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVT DVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVA CDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGHVEAIKEALMAHGLGNRVSVMSYSA KFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHV SGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE*

Gene Symbol:	ALAD
Accession:	NM_001317745
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	166

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLCPLAHAMQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKD ERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPS DMMDGHVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADM LMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLK EE*

Gene Symbol:	ALAD
Accession:	XM_047422946
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	203

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPTSSTPSLSRPGLGQAGKPDTGSHPPPTISTSIFLSCFPTIPLSRPRTTGPSHSYQSISHPRSCRDVPDDIQPITSLP GVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGH CGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGHVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDA AKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQA GAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000285769	CLINVAR
dbSNP (RS)	rs750462706	CLINVAR
MedGen	C0268328	CLINVAR
NCBI Gene	ALAD	CLINVAR
OMIM	125270	CLINVAR
	612740	CLINVAR
SNOMED CT	64081000	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: rs750462706 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

Create Name:

Description:

Send us a Message

Variant: rs750462706 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar