RGD:11050965 Rat Genome Database

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Variant: RGD:11050965 -  Homo sapiens

RGD ID: 11050965
RS ID: rs869312134
ClinVar ID: CV214053
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLA  RPL36A-HNRNPH2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 100,662,833
GRCh38 X 101,407,845
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
LRG_672t1:c.59C>A
LRG_672:g.5119C>A
NG_007119.1:g.5119C>A
NC_000023.11:g.101407845G>T
More... 		11/02/2021 intron variant|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response childhood 1-9 / 1 000 000 1-Deoxygalactonojirimycin response; Alpha-galactosidase A deficiency; Anderson-Fabry disease; Angiokeratoma corporis diffusum; Angiokeratoma, diffuse; Ceramide trihexosidase deficiency; Ceramide trihexosidosis; Fabry's disease; Galafold response; 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:NM_000169
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLVLVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEG
WKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFA
DWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK
SILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAIN
QDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWT
SRLRSHINPTGTVLLQLENTMQMSLKDLL*

Gene Symbol:GLA
Accession:NM_001406747
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLVLVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISWSFALVAQAGVQCHD
LGSPQPPPPRFKQFSCLILASSWNYSEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQ
LANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIV
YSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQ
QVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEI
GGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL*

Gene Symbol:GLA
Accession:NM_001406748
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLVLVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEG
WKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFA
DWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK
SILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAIN
QDPLGKQGYQLRQVNKSIYFKMALYTQYQLCLGPKSIFFPCS*

Gene Symbol:GLA
Accession:NM_001406749
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLVLVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISWSFALVAQAGVQCHD
LGSPQPPPPRFKQFSCLILASSWNYSEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQ
LANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGNVSFQRFSHKGKNFEA
MVAEPKNQSSEF*

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

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

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

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

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

Gene Symbol:GLA
Accession:XM_047441990
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7596372   PMID:17555407   PMID:23935525   PMID:25741868   PMID:26415523   PMID:27657681   PMID:28492532   PMID:33204599  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000208891 CLINVAR
  RCV000209573 CLINVAR
dbSNP (RS) rs869312134 CLINVAR
MedGen C0002986 CLINVAR
  CN233149 CLINVAR
NCBI Gene GLA CLINVAR
  RPL36A-HNRNPH2 CLINVAR
OMIM 300644 CLINVAR
  301500 CLINVAR
SNOMED CT 16652001 CLINVAR