RGD:11050618 Rat Genome Database

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Variant: RGD:11050618 -  Homo sapiens

RGD ID: 11050618
RS ID: rs782058162
ClinVar ID: CV223797
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLA  RPL36A-HNRNPH2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 100,652,848
GRCh38 X 101,397,860
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.1239T>C
LRG_672:g.15104T>C
NG_007119.1:g.15104T>C
NC_000023.11:g.101397860A>G
More... 		07/27/2022 intron variant|synonymous variant benign|likely benign childhood 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: V to V (synonymous)
Amino Acid Position: 227
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPD
MLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSG
LAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLK
DLL*

Gene Symbol:GLA
Accession:NM_001406747
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 454
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: V to V (synonymous)
Amino Acid Position: 413
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEG
WKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFA
DWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK
SILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAIN
QDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWT
SRLRSHINPTGTVLLQLENTMQMSLKDLL*

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

Gene Symbol:GLA
Accession:NR_176253
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:GLA
Accession:NM_001406749
Location:INTRON

Gene Symbol:GLA
Accession:NM_001406748
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003058260 CLINVAR
dbSNP (RS) rs782058162 CLINVAR
MedGen C0002986 CLINVAR
NCBI Gene GLA CLINVAR
  RPL36A-HNRNPH2 CLINVAR
OMIM 300644 CLINVAR
  301500 CLINVAR
SNOMED CT 16652001 CLINVAR