Variant #0000543956 (NC_000011.9:g.45944554C>G, PEX16(NM_057174.2):c.-5192G>C)

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.45944554C>G
DNA change (hg38) g.45923003C>G
Published as GYLTL1B(NM_152312.3):c.121C>G (p.(Arg41Gly))
ISCN -
DB-ID GYLTL1B_000010
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) 0.00685 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX16 NM_004813.2 -?/. - c.-5192G>C r.(?) p.(=)
PEX16 NM_057174.2 -?/. - c.-5192G>C r.(?) p.(=)
GYLTL1B NM_152312.3 -?/. - c.121C>G r.(?) p.(Arg41Gly)