Genomic variant #0000126519

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.212285130G>T
Reference -
DB-ID ERBB4_000021
dbSNP ID rs116387000
Frequency 0.005814
Allele Count 3
Allele Number 516
Combined Depth 2001
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.01231 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ERBB4 NM_001042599.1 ./. - c.3135+36C>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin