Variant #0000515104 (NC_000002.11:g.233410253G>A, CHRNG(NM_005199.4):c.1381G>A)

Chromosome 2
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.233410253G>A
DNA change (hg38) g.232545543G>A
Published as -
ISCN -
DB-ID CHRNG_000074
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) 0.00055 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EIF4E2 NM_004846.2 ?/. - c.-5182G>A r.(?) p.(=)
CHRNG NM_005199.4 ?/. - c.1381G>A r.(?) p.(Gly461Arg)
TIGD1 NM_145702.1 ?/. - c.*2564C>T r.(=) p.(=)