Variant #0000288792 (NC_000023.10:g.48858631C>A, GRIPAP1(NM_020137.3):c.10G>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.48858631C>A
DNA change (hg38) g.49002220C>A
Published as GRIPAP1(NM_020137.4):c.10G>T (p.A4S)
ISCN -
DB-ID GRIPAP1_000018
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) 7.0E-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.10G>T r.(?) p.(Ala4Ser)