RGD:10049073 Rat Genome Database

Variant: RGD:10049073 - Homo sapiens

RGD ID:

10049073

RS ID:

rs147025508

ClinVar ID:

CV195616

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ACP5

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	19	11,685,989
GRCh38	19	11,575,174

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_028127.1:g.8813C>T NC_000019.10:g.11575174G>A NC_000019.9:g.11685989G>A NP_001104505.1:p.Arg272Cys More...	10/01/2019	missense variant	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	AllHighlyPenetrant; COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA; none provided; ROIFMAN IMMUNOSKELETAL SYNDROME; SPONDYLOENCHONDRODYSPLASIA WITH OR WITHOUT IMMUNE DYSREGULATION

Disease Annotations Click to see Annotation Detail View

Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ACP5
Accession:	NM_001111035
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	272

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDMWTALLILQALLLPSLADGATPALRFVAVGDWGGVPNAPFHTAREMANAKEIARTVQILGADFILSLGDNFYFTGVQD INDKRFQETFEDVFSDRSLRKVPWYVLAGNHDHLGNVSAQIAYSKISKRWNFPSPFYRLHFKIPQTNVSVAIFMLDTVTL CGNSDDFLSQQPERPRDVKLARTQLSWLKKQLAAAREDYVLVAGHYPVWSIAEHGPTHCLVKQLRPLLATYGVTAYLCGH DHNLQYLQDENGVGYVLSGAGNFMDPSKRHQCKVPNGYLRFHYGTEDSLGGFAYVEISSKEMTVTYIEASGKSLFKTRLP RRARP*

Gene Symbol:	ACP5
Accession:	XM_005259938
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	272

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDMWTALLILQALLLPSLADGATPALRFVAVGDWGGVPNAPFHTAREMANAKEIARTVQILGADFILSLGDNFYFTGVQD INDKRFQETFEDVFSDRSLRKVPWYVLAGNHDHLGNVSAQIAYSKISKRWNFPSPFYRLHFKIPQTNVSVAIFMLDTVTL CGNSDDFLSQQPERPRDVKLARTQLSWLKKQLAAAREDYVLVAGHYPVWSIAEHGPTHCLVKQLRPLLATYGVTAYLCGH DHNLQYLQDENGVGYVLSGAGNFMDPSKRHQCKVPNGYLRFHYGTEDSLGGFAYVEISSKEMTVTYIEASGKSLFKTRLP RRARP*

Gene Symbol:	ACP5
Accession:	XM_047438945
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	272

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDMWTALLILQALLLPSLADGATPALRFVAVGDWGGVPNAPFHTAREMANAKEIARTVQILGADFILSLGDNFYFTGVQD INDKRFQETFEDVFSDRSLRKVPWYVLAGNHDHLGNVSAQIAYSKISKRWNFPSPFYRLHFKIPQTNVSVAIFMLDTVTL CGNSDDFLSQQPERPRDVKLARTQLSWLKKQLAAAREDYVLVAGHYPVWSIAEHGPTHCLVKQLRPLLATYGVTAYLCGH DHNLQYLQDENGVGYVLSGAGNFMDPSKRHQCKVPNGYLRFHYGTEDSLGGFAYVEISSKEMTVTYIEASGKSLFKTRLP RRARP*

Gene Symbol:	ACP5
Accession:	NM_001111034
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	272

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDMWTALLILQALLLPSLADGATPALRFVAVGDWGGVPNAPFHTAREMANAKEIARTVQILGADFILSLGDNFYFTGVQD INDKRFQETFEDVFSDRSLRKVPWYVLAGNHDHLGNVSAQIAYSKISKRWNFPSPFYRLHFKIPQTNVSVAIFMLDTVTL CGNSDDFLSQQPERPRDVKLARTQLSWLKKQLAAAREDYVLVAGHYPVWSIAEHGPTHCLVKQLRPLLATYGVTAYLCGH DHNLQYLQDENGVGYVLSGAGNFMDPSKRHQCKVPNGYLRFHYGTEDSLGGFAYVEISSKEMTVTYIEASGKSLFKTRLP RRARP*

Gene Symbol:	ACP5
Accession:	XM_047438944
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	272

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDMWTALLILQALLLPSLADGATPALRFVAVGDWGGVPNAPFHTAREMANAKEIARTVQILGADFILSLGDNFYFTGVQD INDKRFQETFEDVFSDRSLRKVPWYVLAGNHDHLGNVSAQIAYSKISKRWNFPSPFYRLHFKIPQTNVSVAIFMLDTVTL CGNSDDFLSQQPERPRDVKLARTQLSWLKKQLAAAREDYVLVAGHYPVWSIAEHGPTHCLVKQLRPLLATYGVTAYLCGH DHNLQYLQDENGVGYVLSGAGNFMDPSKRHQCKVPNGYLRFHYGTEDSLGGFAYVEISSKEMTVTYIEASGKSLFKTRLP RRARP*

Gene Symbol:	ACP5
Accession:	XM_011528069
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	272

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDMWTALLILQALLLPSLADGATPALRFVAVGDWGGVPNAPFHTAREMANAKEIARTVQILGADFILSLGDNFYFTGVQD INDKRFQETFEDVFSDRSLRKVPWYVLAGNHDHLGNVSAQIAYSKISKRWNFPSPFYRLHFKIPQTNVSVAIFMLDTVTL CGNSDDFLSQQPERPRDVKLARTQLSWLKKQLAAAREDYVLVAGHYPVWSIAEHGPTHCLVKQLRPLLATYGVTAYLCGH DHNLQYLQDENGVGYVLSGAGNFMDPSKRHQCKVPNGYLRFHYGTEDSLGGFAYVEISSKEMTVTYIEASGKSLFKTRLP RRARP*

Gene Symbol:	ACP5
Accession:	NM_001111036
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	272

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDMWTALLILQALLLPSLADGATPALRFVAVGDWGGVPNAPFHTAREMANAKEIARTVQILGADFILSLGDNFYFTGVQD INDKRFQETFEDVFSDRSLRKVPWYVLAGNHDHLGNVSAQIAYSKISKRWNFPSPFYRLHFKIPQTNVSVAIFMLDTVTL CGNSDDFLSQQPERPRDVKLARTQLSWLKKQLAAAREDYVLVAGHYPVWSIAEHGPTHCLVKQLRPLLATYGVTAYLCGH DHNLQYLQDENGVGYVLSGAGNFMDPSKRHQCKVPNGYLRFHYGTEDSLGGFAYVEISSKEMTVTYIEASGKSLFKTRLP RRARP*

Gene Symbol:	ACP5
Accession:	NM_001611
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	272

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDMWTALLILQALLLPSLADGATPALRFVAVGDWGGVPNAPFHTAREMANAKEIARTVQILGADFILSLGDNFYFTGVQD INDKRFQETFEDVFSDRSLRKVPWYVLAGNHDHLGNVSAQIAYSKISKRWNFPSPFYRLHFKIPQTNVSVAIFMLDTVTL CGNSDDFLSQQPERPRDVKLARTQLSWLKKQLAAAREDYVLVAGHYPVWSIAEHGPTHCLVKQLRPLLATYGVTAYLCGH DHNLQYLQDENGVGYVLSGAGNFMDPSKRHQCKVPNGYLRFHYGTEDSLGGFAYVEISSKEMTVTYIEASGKSLFKTRLP RRARP*

Gene Symbol:	ACP5
Accession:	NM_001322023
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	272

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDMWTALLILQALLLPSLADGATPALRFVAVGDWGGVPNAPFHTAREMANAKEIARTVQILGADFILSLGDNFYFTGVQD INDKRFQETFEDVFSDRSLRKVPWYVLAGNHDHLGNVSAQIAYSKISKRWNFPSPFYRLHFKIPQTNVSVAIFMLDTVTL CGNSDDFLSQQPERPRDVKLARTQLSWLKKQLAAAREDYVLVAGHYPVWSIAEHGPTHCLVKQLRPLLATYGVTAYLCGH DHNLQYLQDENGVGYVLSGAGNFMDPSKRHQCKVPNGYLRFHYGTEDSLGGFAYVEISSKEMTVTYIEASGKSLFKTRLP RRARP*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000179812	CLINVAR
	RCV000514245	CLINVAR
	RCV000537794	CLINVAR
	RCV003955090	CLINVAR
dbSNP (RS)	rs147025508	CLINVAR
MedGen	C1842763	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	ACP5	CLINVAR
OMIM	171640	CLINVAR
	607944	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)

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Variant: RGD:10049073 - Homo sapiens

Imported Disease Annotations - ClinVar