RGD:8605307 Rat Genome Database

Variant: RGD:8605307 - Homo sapiens

RGD ID:

8605307

RS ID:

rs150547672

ClinVar ID:

CV51634

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GLA RPL36A-HNRNPH2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	100,662,884
GRCh38	X	101,407,896

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
p.L3P NG_007119.1:g.5068T>C NC_000023.11:g.101407896A>G NC_000023.10:g.100662884A>G More...	12/31/2019	2kb upstream variant\|intron variant\|missense variant	benign\|likely benign\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance	childhood	1-9 / 1 000 000	1-Deoxygalactonojirimycin response; AllHighlyPenetrant; Alpha-galactosidase A deficiency; Anderson-Fabry disease; Angiokeratoma corporis diffusum; Angiokeratoma, diffuse; Cardiomyopathies; Ceramide trihexosidase deficiency; Ceramide trihexosidosis; Fabry's disease; Galafold response; GLA deficiency; Hereditary dystopic lipidosis

Disease Annotations Click to see Annotation Detail View

cardiomyopathy (IAGP)

Fabry disease (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Angiokeratoma corporis diffusum (IAGP)

Cardiomyopathy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	GLA
Accession:	NM_001406748
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	3

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEG WKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFA DWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK SILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAIN QDPLGKQGYQLRQVNKSIYFKMALYTQYQLCLGPKSIFFPCS*

Gene Symbol:	GLA
Accession:	NM_000169
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	3

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEG WKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFA DWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK SILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAIN QDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWT SRLRSHINPTGTVLLQLENTMQMSLKDLL*

Gene Symbol:	GLA
Accession:	NM_001406749
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	3

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISWSFALVAQAGVQCHD LGSPQPPPPRFKQFSCLILASSWNYSEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQ LANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGNVSFQRFSHKGKNFEA MVAEPKNQSSEF*

Gene Symbol:	GLA
Accession:	NM_001406747
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	3

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQRRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISWSFALVAQAGVQCHD LGSPQPPPPRFKQFSCLILASSWNYSEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQ LANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIV YSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQ QVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEI GGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL*

Gene Symbol:	GLA
Accession:	NR_164783
Location:	EXON;NON-CODING

Gene Symbol:	GLA
Accession:	NR_176253
Location:	EXON;NON-CODING

Gene Symbol:	GLA
Accession:	NR_176252
Location:	EXON;NON-CODING

Gene Symbol:	RPL36A-HNRNPH2
Accession:	NM_001199974
Location:	INTRON

Gene Symbol:	RPL36A-HNRNPH2
Accession:	NM_001199973
Location:	INTRON

Gene Symbol:	GLA
Accession:	XM_047441990
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:2836863	PMID:6379599	PMID:24033266	PMID:25741868	PMID:26415523	PMID:27916943	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000035313	CLINVAR
	RCV000209183	CLINVAR
	RCV000209748	CLINVAR
	RCV000622119	CLINVAR
	RCV001798076	CLINVAR
dbSNP (RS)	rs150547672	CLINVAR
MedGen	C0002986	CLINVAR
	C0878544	CLINVAR
	CN169374	CLINVAR
	CN230736	CLINVAR
	CN233149	CLINVAR
NCBI Gene	GLA	CLINVAR
	RPL36A-HNRNPH2	CLINVAR
OMIM	300644	CLINVAR
	301500	CLINVAR
SNOMED CT	16652001	CLINVAR
	85898001	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:8605307 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8605307 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar