Variant #0000052232 (NC_000017.10:g.41267761_41267762delinsGC, BRCA1(NM_007294.3):c.115_116delinsGC)

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.41267761_41267762delinsGC
DNA change (hg38) g.43115744_43115745delinsGC
Published as 115_116TG>GCC(39A)
ISCN -
DB-ID BRCA1_000030
Variant remarks -
Reference PubMed: Brzovic 2001b
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Peter Devilee
Database submission license No license selected
Created by Maaike Vreeswijk
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 ?/. 3 c.115_116delinsGC r.(?) p.Cys39Ala -