Variant #0000003068 (NC_000023.11:g.44885G>A, HPRT1(NM_000194.3):c.610-1G>A)

Individual ID 00000792
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.44885G>A
Published as -
Reference Bee C Chen et al.(2014)
DB-ID HPRT1_000001 See all 4 reported entries
dbSNP ID rs1085307889
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
HPRT1 NM_000194.3 +/. - c.610-1G>A - r.spl? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000886 DNA SEQ HPRT1 1 Nur Aisyah Athirah