Variant #0000308683 (NC_000006.11:g.86282026T>C, SNX14(NM_153816.3):c.328A>G)

Chromosome 6
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.86282026T>C
DNA change (hg38) g.85572308T>C
Published as SNX14(NM_153816.5):c.328A>G (p.K110E)
ISCN -
DB-ID SNX14_000011
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) 0.00035 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SNX14 NM_153816.3 -?/. - c.328A>G r.(?) p.(Lys110Glu)