Genomic variant #0000032083

Individual ID 00017812
Chromosome 16
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.14029352C>G
Reference -
DB-ID ERCC4_000016 See all 9 reported entries
dbSNP ID rs41552412
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00153
Allele Count 9
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ERCC4 NM_005236.2 -?/-? - c.1563C>G r.(?) p.(Ser521Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001853 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou