Variant #0000529950 (NC_000006.11:g.86227734T>C, SNX14(NM_153816.3):c.2140A>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.86227734T>C
DNA change (hg38) g.85518016T>C
Published as SNX14(NM_001350532.1):c.2203A>G (p.M735V)
ISCN -
DB-ID SNX14_000019
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) 1.0E-5 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.2140A>G r.(?) p.(Met714Val)