Genomic variant #0000172767

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.148712035C>T
Reference -
DB-ID GYG1_000025
dbSNP ID rs61733452
Frequency 0.031
Allele Count 16
Allele Number 516
Combined Depth 6223
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.04659 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GYG1 NM_004130.3 ./. - c.114C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin