Variant #0000350650 (NC_000017.10:g.4805758A>C, NM_000080.3:c.221T>G (CHRNE))

Chromosome 17
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.4805758A>C
DNA change (hg38) g.4902463A>C
Published as -
ISCN -
DB-ID C17orf107_000007
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 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNE NM_000080.3 ?/. - c.221T>G r.(?) p.(Val74Gly)
C17orf107 NM_001145536.1 ?/. - c.*1930A>C r.(=) p.(=)
MINK1 NM_015716.4 ?/. - c.*5176A>C r.(=) p.(=)


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