Variant #0000005035 (NC_000005.9:g.74651084A>G, HMGCR(NM_000859.2):c.1722+45A>G)

Individual ID 00005036
Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.74651084A>G
Reference Cao L et al. (2016)
DB-ID HMGCR_000001
Frequency -
Average frequency (gnomAD v.2.1.1) 0.50044 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HMGCR NM_000859.2 ./. 13 c.1722+45A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005039 ? ? HMGCR 1 XY Liu