Variant #0000693629 (NC_000023.10:g.48826509G>A, GRIPAP1(NM_020137.3):c.*4096C>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.48826509G>A
DNA change (hg38) -
Published as KCND1(NM_004979.5):c.170C>T (p.T57M)
ISCN -
DB-ID KCND1_000021
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) 2.0E-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.170C>T r.(?) p.(Thr57Met)
GRIPAP1 NM_020137.3 ?/. - c.*4096C>T r.(=) p.(=)