Genomic variant #0000168188

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.128525253C>T
Reference -
DB-ID RAB7A_000004
dbSNP ID rs4548
Frequency 0.054
Allele Count 28
Allele Number 516
Combined Depth 3924
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.0449 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RAB7A NM_004637.5 ./. - c.219C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin