Variant #0000810458 (NC_000023.10:g.48826031C>G, GRIPAP1(NM_020137.3):c.*4574G>C)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.48826031C>G
DNA change (hg38) -
Published as KCND1(NM_004979.5):c.648G>C (p.R216S)
ISCN -
DB-ID KCND1_000023
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) 1.0E-5 View details
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.648G>C r.(?) p.(Arg216Ser)
GRIPAP1 NM_020137.3 -?/. - c.*4574G>C r.(=) p.(=)