Variant #0000515109 (NC_000002.11:g.233414144G>A, CHRNG(NM_005199.4):c.*3718G>A)

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.233414144G>A
DNA change (hg38) g.232549434G>A
Published as TIGD1(NM_145702.1):c.449C>T (p.(Ala150Val))
ISCN -
DB-ID CHRNG_000078
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_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.-1291G>A r.(?) p.(=)
CHRNG NM_005199.4 -?/. - c.*3718G>A r.(=) p.(=)
TIGD1 NM_145702.1 -?/. - c.449C>T r.(?) p.(Ala150Val)