Genomic variant #0000187997

Individual ID 00000001
Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.140688522C>G
Reference -
DB-ID HARS_000003
dbSNP ID rs702396
Frequency 0.2015
Homozygous 18
Heterozygote 101
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HARS NM_002109.5 ./. - c.180+2333G>C - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin