Variant #0000334028 (NC_000023.10:g.48814573G>A, KCND1(NM_004979.4):c.*5269C>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.48814573G>A
DNA change (hg38) g.48957311G>A
Published as OTUD5(NM_001136157.1):c.260C>T (p.(Pro87Leu))
ISCN -
DB-ID OTUD5_000010
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.*5269C>T r.(=) p.(=)
OTUD5 NM_017602.3 ?/. - c.260C>T r.(?) p.(Pro87Leu)