Genomic variant #0000000077

Individual ID 00000001
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.871334G>A
Reference -
DB-ID SAMD11_000023
dbSNP ID rs4072383
Frequency 0.001961
Allele Count 1
Allele Number 510
Combined Depth 1916
Homozygous 91
Heterozygote 101
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     
SAMD11 NM_152486.2 ./. - c.430+58G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin