RGD:11050721 Rat Genome Database

RGD:11050721 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Variant: RGD:11050721 - Homo sapiens

RGD ID:

11050721

ClinVar ID:

CV223924

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GLA RPL36A-HNRNPH2

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	X	100,653,774
GRCh38	X	101,398,786

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
LRG_672t1:c.800T>C NM_000169.2:c.800T>C LRG_672:g.14178T>C NG_007119.1:g.14178T>C More...	12/01/2015	missense 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:	M to R (nonsynonymous)
Amino Acid Position:	81

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPD RLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSG LAWAVAMINRQEIGGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLK DLL*

Gene Symbol:	GLA
Accession:	NM_001406747
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	308

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISWSFALVAQAGVQCHD LGSPQPPPPRFKQFSCLILASSWNYSEKLFMEMAELMVSEGWKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQ LANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFADWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIV YSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIKSILDWTSFNQERIVDVAGPGGWNDPDRLVIGNFGLSWNQ QVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAINQDPLGKQGYQLRQGDNFEVWERPLSGLAWAVAMINRQEI GGPRSYTIAVASLGKGVACNPACFITQLLPVKRKLGFYEWTSRLRSHINPTGTVLLQLENTMQMSLKDLL*

Gene Symbol:	GLA
Accession:	NM_001406748
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	267

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEG WKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFA DWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK SILDWTSFNQERIVDVAGPGGWNDPDRLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAIN QDPLGKQGYQLRQVNKSIYFKMALYTQYQLCLGPKSIFFPCS*

Gene Symbol:	GLA
Accession:	NM_000169
Location:	EXON
Amino Acid Prediction:	M to R (nonsynonymous)
Amino Acid Position:	267

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQLRNPELHLGCALALRFLALVSWDIPGARALDNGLARTPTMGWLHWERFMCNLDCQEEPDSCISEKLFMEMAELMVSEG WKDAGYEYLCIDDCWMAPQRDSEGRLQADPQRFPHGIRQLANYVHSKGLKLGIYADVGNKTCAGFPGSFGYYDIDAQTFA DWGVDLLKFDGCYCDSLENLADGYKHMSLALNRTGRSIVYSCEWPLYMWPFQKPNYTEIRQYCNHWRNFADIDDSWKSIK SILDWTSFNQERIVDVAGPGGWNDPDRLVIGNFGLSWNQQVTQMALWAIMAAPLFMSNDLRHISPQAKALLQDKDVIAIN 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_001199973
Location:	INTRON

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

Gene Symbol:	GLA
Accession:	NM_001406749
Location:	INTRON

Variant Samples