Variant #0000576296 (NC_000023.10:g.48846286C>T, GRIPAP1(NM_020137.3):c.731G>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.48846286C>T
DNA change (hg38) g.48989874C>T
Published as GRIPAP1(NM_020137.4):c.731G>A (p.R244H)
ISCN -
DB-ID GRIPAP1_000024
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) 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     
GRIPAP1 NM_020137.3 ?/. - c.731G>A r.(?) p.(Arg244His)