Genomic variant #0000172770

Individual ID 00000001
Chromosome 3
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148714249G>C
Reference -
DB-ID GYG1_000028
dbSNP ID rs143137713
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 5442
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00131 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GYG1 NM_004130.3 ./. - c.304G>C r.(?) p.(Asp102His)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin