Genomic variant #0000172774

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.148714662A>T
Reference -
DB-ID GYG1_000032
dbSNP ID rs35054019
Frequency 0.007752
Allele Count 4
Allele Number 516
Combined Depth 6791
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.01053 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GYG1 NM_004130.3 ./. - c.452A>T r.(?) p.(His151Leu)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin