Genomic variant #0000562588

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.59938865C>A
DNA change (hg38) -
Published as BRIP1(NM_032043.2):c.36G>T (p.G12=)
ISCN -
DB-ID BRIP1_000034 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 (large NGS studies) 0.00031 View details
Owner VKGL-NL_Rotterdam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
INTS2 NM_020748.2 -?/. - c.*6053G>T likely benign r.(=) p.(=) -
BRIP1 NM_032043.2 -?/. - c.36G>T likely benign r.(?) p.(=) -