RGD:13521365 Rat Genome Database

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Variant: RGD:13521365 -  Homo sapiens

RGD ID: 13521365
RS ID: rs1555987235
ClinVar ID: CV495888
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLA  RPL36A-HNRNPH2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 100,662,892
GRCh38 X 101,407,904
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_672t1:c.-1A>G
LRG_672:g.5060A>G
NG_007119.1:g.5060A>G
NC_000023.11:g.101407904T>C
More... 		02/28/2018 5 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GLA
Accession:NM_001406747
Location:5UTRS;EXON

Gene Symbol:GLA
Accession:NM_001406749
Location:5UTRS;EXON

Gene Symbol:GLA
Accession:NM_001406748
Location:5UTRS;EXON

Gene Symbol:GLA
Accession:NM_000169
Location:5UTRS;EXON

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:RPL36A-HNRNPH2
Accession:NM_001199973
Location:INTRON

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

Gene Symbol:GLA
Accession:XM_047441990
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000599393 CLINVAR
dbSNP (RS) rs1555987235 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene GLA CLINVAR
  RPL36A-HNRNPH2 CLINVAR
OMIM 300644 CLINVAR