RGD:8561900 Rat Genome Database

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Variant: RGD:8561900 -  Homo sapiens

RGD ID: 8561900
RS ID: rs104894852
ClinVar ID: CV25810
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLA  RPL36A-HNRNPH2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 100,652,859
GRCh38 X 101,397,871
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007119.1:g.15093A>G
NC_000023.11:g.101397871T>C
NC_000023.10:g.100652859T>C
NP_000160.1:p.Thr410Ala
More... 		12/01/2015 intron|intron variant|missense|missense variant pathogenic childhood 1-5 / 10 000|1-9 / 1 000 000 Alpha-galactosidase A deficiency; Anderson-Fabry disease; Angiokeratoma corporis diffusum; Angiokeratoma, diffuse; Ceramide trihexosidase deficiency; Ceramide trihexosidosis; Fabry's disease; GLA deficiency; Hereditary dystopic lipidosis
Disease Annotations     Click to see Annotation Detail View
Fabry disease  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GLA
Accession:XM_047441990
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPD
MLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSG
LAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPPGTVLLQLENTMQMSLK
DLL*

Gene Symbol:GLA
Accession:NM_001406747
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISWSFALVAQAGVQCHD
LGSPQPPPPRFKQFSCLILASSWNYSEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQ
LANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIV
YSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQ
QVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEI
GGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPPGTVLLQLENTMQMSLKDLL*

Gene Symbol:GLA
Accession:NM_000169
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEG
WKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFA
DWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK
SILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAIN
QDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWT
SRLRSHINPPGTVLLQLENTMQMSLKDLL*

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:GLA
Accession:NM_001406748
Location:INTRON

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

Gene Symbol:GLA
Accession:NM_001406749
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:12694230   PMID:22004918   PMID:28492532   PMID:30380558  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011518 CLINVAR
dbSNP (RS) rs104894852 CLINVAR
MedGen C0002986 CLINVAR
NCBI Gene GLA CLINVAR
  RPL36A-HNRNPH2 CLINVAR
OMIM 300644 CLINVAR
  301500 CLINVAR
OMIM Allele 300644.0059 CLINVAR
SNOMED CT 16652001 CLINVAR