Variant #0000266806 (NC_000002.11:g.233410294C>T, CHRNG(NM_005199.4):c.1422C>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.233410294C>T
DNA change (hg38) g.232545584C>T
Published as CHRNG(NM_005199.5):c.1422C>T (p.R474=)
ISCN -
DB-ID CHRNG_000064 See all 2 reported entries
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) 0.18712 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EIF4E2 NM_004846.2 -/. - c.-5141C>T r.(?) p.(=)
CHRNG NM_005199.4 -/. - c.1422C>T r.(?) p.(Arg474=)
TIGD1 NM_145702.1 -/. - c.*2523G>A r.(=) p.(=)