Genomic variant #0000269374

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.59940819C>T
DNA change (hg38) -
Published as BRIP1(NM_032043.2):c.-205G>A
ISCN -
DB-ID BRIP1_000036
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
INTS2 NM_020748.2 -/. - c.*4099G>A benign r.(=) p.(=) -
BRIP1 NM_032043.2 -/. - c.-205G>A benign r.(?) p.(=) -