Variant #0000288793 (NC_000023.10:g.48839662C>T, GRIPAP1(NM_020137.3):c.1463G>A)

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.48839662C>T
DNA change (hg38) g.48983250C>T
Published as GRIPAP1(NM_020137.4):c.1463G>A (p.R488H)
ISCN -
DB-ID GRIPAP1_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) 3.0E-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     
GRIPAP1 NM_020137.3 ?/. - c.1463G>A r.(?) p.(Arg488His)