Variant #0000290038 (NC_000023.10:g.48825907G>A, GRIPAP1(NM_020137.3):c.*4698C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.48825907G>A
DNA change (hg38) g.48969500G>A
Published as KCND1(NM_004979.5):c.772C>T (p.R258C)
ISCN -
DB-ID KCND1_000014
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_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     
KCND1 NM_004979.4 -/. - c.772C>T r.(?) p.(Arg258Cys)
GRIPAP1 NM_020137.3 -/. - c.*4698C>T r.(=) p.(=)