Genomic variant #0000168187

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.128514338G>A
Reference -
DB-ID RAB7A_000003
dbSNP ID rs149563047
Frequency 0.005814
Allele Count 3
Allele Number 516
Combined Depth 2923
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.01314 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RAB7A NM_004637.5 ./. - c.53+75G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin