Genomic variant #0000126533

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.212295643C>T
Reference -
DB-ID ERBB4_000035
dbSNP ID rs147466636
Frequency 0.005837
Allele Count 3
Allele Number 514
Combined Depth 2434
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.01238 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ERBB4 NM_001042599.1 ./. - c.2643+27G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin