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 |

Variant on transcripts
Screenings
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