Variant #0000334027 (NC_000023.10:g.48814519C>G, KCND1(NM_004979.4):c.*5323G>C)

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.48814519C>G
DNA change (hg38) g.48957257C>G
Published as OTUD5(NM_001136157.1):c.314G>C (p.(Gly105Ala))
ISCN -
DB-ID OTUD5_000009
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) 0.00096 View details
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.*5323G>C r.(=) p.(=)
OTUD5 NM_017602.3 ?/. - c.314G>C r.(?) p.(Gly105Ala)