Genomic variant #0000172766

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.148711923A>T
Reference -
DB-ID GYG1_000023
dbSNP ID rs1313549770
Frequency 0.012
Allele Count 6
Allele Number 516
Combined Depth 3069
Homozygous 0
Heterozygote 6
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.8-6A>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin