Genomic variant #0000172785

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.148727133G>A
Reference -
DB-ID GYG1_000010
dbSNP ID rs4938
Frequency 0.324
Allele Count 167
Allele Number 516
Combined Depth 5934
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.29433 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GYG1 NM_004130.3 ./. - c.552G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin