Variant #0000543953 (NC_000011.9:g.45937248dup, PEX16(NM_057174.2):c.359+7dup)

Chromosome 11
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.45937248dup
DNA change (hg38) g.45915697dup
Published as PEX16(NM_004813.2):c.359+7dupT (p.(=))
ISCN -
DB-ID PEX16_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) Retrieve
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     
PEX16 NM_004813.2 -?/. - c.359+7dup r.(=) p.(=)
PEX16 NM_057174.2 -?/. - c.359+7dup r.(=) p.(=)