Genomic variant #0000172765

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.148711921G>T
Reference -
DB-ID GYG1_000021
dbSNP ID rs1374147137
Frequency 0.039
Allele Count 20
Allele Number 516
Combined Depth 3059
Homozygous 0
Heterozygote 20
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GYG1 NM_004130.3 ./. - c.8-8G>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin