Genomic variant #0000126578

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.212578302C>G
Reference -
DB-ID ERBB4_000080
dbSNP ID rs759603522
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 3871
Homozygous -
Heterozygote -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ERBB4 NM_001042599.1 ./. - c.955G>C r.(?) p.(Gly319Arg)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin