Genomic variant #0000439771

Individual ID 00000003
Chromosome 7
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.48244502C>T
Reference dbSNP
DB-ID ABCA13_000073
Frequency 0.05
Allele Count 10
Allele Number 202
Depth 462
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     
ABCA13 NM_152701.4 ./.
ABCA13 XM_011515130.1 ./.
ABCA13 XM_011515131.1 ./.
ABCA13 XM_011515132.1 ./.
ABCA13 XM_011515133.1 ./.
ABCA13 XM_011515134.1 ./.
ABCA13 XM_011515135.1 ./.
ABCA13 XM_011515136.1 ./.
ABCA13 XM_011515137.1 ./.
ABCA13 XM_011515138.1 ./.
ABCA13 XM_011515139.1 ./.
ABCA13 XM_011515140.1 ./.
ABCA13 XM_011515141.1 ./.
ABCA13 XM_011515142.1 ./.
ABCA13 XM_011515143.1 ./.
ABCA13 XM_011515144.1 ./.
ABCA13 XM_011515145.1 ./.
ABCA13 XM_011515146.1 ./.
ABCA13 XM_011515147.1 ./.
ABCA13 XM_011515148.1 ./.
ABCA13 XM_011515149.1 ./.



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000003 DNA SEQ-NG-I - 624137 Admin