RGD:11050916 Rat Genome Database

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Variant: RGD:11050916 -  Homo sapiens

RGD ID: 11050916
ClinVar ID: CV223803
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: GLA  RPL36A-HNRNPH2  
Reference Nucleotide: T
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 X 100,652,879
GRCh38 X 101,397,891
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
NM_000169.2:c.1208del
LRG_672t1:c.1208delT
NM_000169.2:c.1208delT
LRG_672:g.15073delT
More... 		12/01/2015 frameshift variant pathogenic childhood 1-9 / 1 000 000 Fabry's disease

Variant Details
Variant Transcripts
Gene Symbol:GLA
Accession:XM_047441990
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPD
MLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSG
LAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSR*RSHINPTGTVLLQLENTMQMSLK
DLL*

Gene Symbol:GLA
Accession:NM_001406747
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 444
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISWSFALVAQAGVQCHD
LGSPQPPPPRFKQFSCLILASSWNYSEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQ
LANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIV
YSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQ
QVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEI
GGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSR*RSHINPTGTVLLQLENTMQMSLKDLL*

Gene Symbol:GLA
Accession:NM_000169
Location:EXON
Amino Acid Prediction: L to * (nonsynonymous)
Amino Acid Position: 403
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEG
WKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFA
DWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK
SILDWTSFNQERIVDVAGPGGWNDPDMLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAIN
QDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWT
SR*RSHINPTGTVLLQLENTMQMSLKDLL*

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_001406749
Location:INTRON

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

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

Gene Symbol:GLA
Accession:NM_001406748
Location:INTRON

Variant Samples