Variant #0000334026 (NC_000023.10:g.48814319C>T, KCND1(NM_004979.4):c.*5523G>A)

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.48814319C>T
DNA change (hg38) g.48957057C>T
Published as OTUD5(NM_001136157.1):c.514G>A (p.(Gly172Ser))
ISCN -
DB-ID OTUD5_000008
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCND1 NM_004979.4 ?/. - c.*5523G>A r.(=) p.(=)
OTUD5 NM_017602.3 ?/. - c.514G>A r.(?) p.(Gly172Ser)