Variant #0000401436 (NC_000023.10:g.48838048T>G, GRIPAP1(NM_020137.3):c.1733A>C)

Individual ID 00173167
Chromosome X
Allele Parent #1
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.48838048T>G
DNA change (hg38) g.48981636T>G
Published as E221A
ISCN -
DB-ID GRIPAP1_000012 See all 2 reported entries
Variant remarks recurrent, found 3 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 3/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00608 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GRIPAP1 NM_020137.3 ?/. - c.1733A>C r.(?) p.(Glu578Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174050 DNA SEQ - - HEPH 1 Lucy Raymond