RGD:126910705 Rat Genome Database

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Variant: RGD:126910705 -  Homo sapiens

RGD ID: 126910705
RS ID: rs1351477965
ClinVar ID: CV1052230
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLA  RPL36A-HNRNPH2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 100,656,617
GRCh38 X 101,401,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.10:g.100656617T>C
NM_001199974.2:c.177+9807T>C
NM_001199973.2:c.300+6172T>C
NC_000023.11:g.101401629T>C
More... 		01/15/2020 intron variant uncertain significance 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:NM_001406749
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 225
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISWSFALVAQAGVQCHD
LGSPQPPPPRFKQFSCLILASSWNYSEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQ
LANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGHVSFQRFSHKGKNFEA
MVAEPKNQSSEF*

Gene Symbol:GLA
Accession:NM_000169
Location:INTRON

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

Gene Symbol:GLA
Accession:NM_001406747
Location:INTRON

Gene Symbol:GLA
Accession:NM_001406748
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:27225851   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001368906 CLINVAR
dbSNP (RS) rs1351477965 CLINVAR
MedGen C0002986 CLINVAR
NCBI Gene GLA CLINVAR
  RPL36A-HNRNPH2 CLINVAR
OMIM 300644 CLINVAR
  301500 CLINVAR
SNOMED CT 16652001 CLINVAR