Variant #0000259793 (NC_000007.13:g.2580939_2580940del, BRAT1(NM_152743.3):c.1313_1314del)

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.2580939_2580940del
DNA change (hg38) g.2541305_2541306del
Published as BRAT1(NM_152743.4):c.1313_1314delAG (p.Q438Rfs*51)
ISCN -
DB-ID BRAT1_000007
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRAT1 NM_152743.3 +/. - c.1313_1314del r.(?) p.(Gln438ArgfsTer51)