Variant #0000575520 (NC_000023.10:g.30326633_30326634insTTTTTT, NR0B1(NM_000475.4):c.848_849insAAAAAA)

Chromosome X
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.30326633_30326634insTTTTTT
DNA change (hg38) g.30308516_30308517insTTTTTT
Published as NR0B1(NM_000475.5):c.848_849insAAAAAA (p.Q283_L284insKK)
ISCN -
DB-ID NR0B1_000128
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_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NR0B1 NM_000475.4 +/. - c.848_849insAAAAAA r.(?) p.(Gln283_Leu284insLysLys)