Variant #0000930863 (NC_000017.10:g.59938882C>G, NM_032043.2:c.19G>C (BRIP1))

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.59938882C>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID BRIP1_000759 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2023-07-07 10:10:56 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
INTS2 NM_020748.2 -?/. - c.*6036G>C r.(=) p.(=) -
BRIP1 NM_032043.2 -?/. - c.19G>C r.(?) p.(Glu7Gln) -


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