Variant #0000693474 (NC_000023.10:g.153670921G>A, GDI1(NM_001493.2):c.1246G>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.153670921G>A
DNA change (hg38) -
Published as GDI1(NM_001493.2):c.1246G>A (p.D416N)
ISCN -
DB-ID GDI1_000025
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     
GDI1 NM_001493.2 ?/. - c.1246G>A r.(?) p.(Asp416Asn)
FAM50A NM_004699.3 ?/. - c.-1662G>A r.(?) p.(=)