Variant #0000648255 (NC_000011.9:g.45937306C>T, PEX16(NM_057174.2):c.307G>A)

Individual ID 00290398
Chromosome 11
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.45937306C>T
DNA change (hg38) g.45915755C>T
Published as -
ISCN -
DB-ID PEX16_000008 See all 3 reported entries
Variant remarks 118 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs11553094
Origin Germline
Segregation -
Frequency 118/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.02302 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX16 NM_004813.2 -/. - c.307G>A r.(?) p.(Val103Met)
PEX16 NM_057174.2 -/. - c.307G>A r.(?) p.(Val103Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291566 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq