Variant #0000266336 (NC_000023.10:g.79943569T>C, BRWD3(NM_153252.4):c.3863=)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.79943569T>C
DNA change (hg38) g.80688070T>C
Published as BRWD3(NM_153252.5):c.3863A>G (p.K1288R)
ISCN -
DB-ID BRWD3_000015 See all 3 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) 0.99786 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRWD3 NM_153252.4 -/. - c.3863= r.(=) p.(Arg1288=)