Variant #0000328178 (NC_000002.11:g.233413397_233413402del, CHRNG(NM_005199.4):c.*2971_*2976del)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.233413397_233413402del
DNA change (hg38) g.232548687_232548692del
Published as TIGD1(NM_145702.1):c.1195_1200del (p.(Leu399_Thr400del))
ISCN -
DB-ID TIGD1_000001
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EIF4E2 NM_004846.2 -?/. - c.-2038_-2033del r.(?) p.(=)
CHRNG NM_005199.4 -?/. - c.*2971_*2976del r.(=) p.(=)
TIGD1 NM_145702.1 -?/. - c.1195_1200del r.(?) p.(Leu399_Thr400del)