Variant #0000851578 (NC_000007.13:g.2578567_2578568del, BRAT1(NM_152743.3):c.1771-170_1771-169del)

Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.2578567_2578568del
DNA change (hg38) -
Published as BRAT1(NM_001350626.1):c.1781_1782delTG (p.L594Qfs*22)
ISCN -
DB-ID BRAT1_000051
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRAT1 NM_152743.3 +/. - c.1771-170_1771-169del r.(=) p.(=)