Variant #0000331107 (NC_000006.11:g.86281874A>G, SNX14(NM_153816.3):c.398T>C)

Chromosome 6
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.86281874A>G
DNA change (hg38) g.85572156A>G
Published as SNX14(NM_020468.3):c.398T>C (p.(Val133Ala))
ISCN -
DB-ID SNX14_000010
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     
SNX14 NM_153816.3 ?/. - c.398T>C r.(?) p.(Val133Ala)