RGD:14395743 Rat Genome Database

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Variant: RGD:14395743 -  Homo sapiens

RGD ID: 14395743
RS ID: rs1183869568
ClinVar ID: CV611930
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLA  RPL36A-HNRNPH2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 100,656,765
GRCh38 X 101,401,777
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199973.2:c.300+6320A>C
NP_000160.1:p.Tyr134Ter
NC_000023.11:g.101401777A>C
LRG_672t1:c.402T>G
More... 		12/04/2023 intron variant pathogenic 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; none provided
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_001406748
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEG
WKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFA
DWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK
SILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAIN
QDPLGKQGYQLRQVNKSIYFKMALYTQYQLCLGPKSIFFPCS*

Gene Symbol:GLA
Accession:NM_001406749
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISWSFALVAQAGVQCHD
LGSPQPPPPRFKQFSCLILASSWNYSEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQ
LANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGNVSFQRFSHKGKNFEA
MVAEPKNQSSEF*

Gene Symbol:GLA
Accession:NM_001406747
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISWSFALVAQAGVQCHD
LGSPQPPPPRFKQFSCLILASSWNYSEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQ
LANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIV
YSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQ
QVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEI
GGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL*

Gene Symbol:GLA
Accession:NM_000169
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEG
WKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFA
DWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK
SILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAIN
QDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWT
SRLRSHINPTGTVLLQLENTMQMSLKDLL*

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

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

Gene Symbol:GLA
Accession:NR_164783
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
Additional References at PubMed
PMID:10666480   PMID:10916280   PMID:12175777   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000760339 CLINVAR
  RCV003479214 CLINVAR
dbSNP (RS) rs1183869568 CLINVAR
MedGen C0002986 CLINVAR
  C3661900 CLINVAR
NCBI Gene GLA CLINVAR
  RPL36A-HNRNPH2 CLINVAR
OMIM 300644 CLINVAR
  301500 CLINVAR
SNOMED CT 16652001 CLINVAR