Genomic variant #0000126514

Individual ID 00000001
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.212252769del
Reference -
DB-ID ERBB4_000016
dbSNP ID rs142227938
Frequency 0.00969
Allele Count 5
Allele Number 516
Combined Depth 4495
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00998 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ERBB4 NM_001042599.1 ./. - c.3136-894del r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin