Variant #0000810252 (NC_000023.10:g.2407844G>A, ZBED1(NM_004729.3):c.917C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.2407844G>A
DNA change (hg38) -
Published as ZBED1(NM_001171135.1):c.917C>T (p.P306L)
ISCN -
DB-ID DHRSX_000006
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 View details
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     
ZBED1 NM_004729.3 ?/. - c.917C>T r.(?) p.(Pro306Leu)
DHRSX NM_145177.2 ?/. - c.109+11014C>T r.(=) p.(=)