Variant #0000533044 (NC_000007.13:g.92147202C>T, PEX1(NM_000466.2):c.627G>A)
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.92147202C>T |
DNA change (hg38) |
g.92517888C>T |
Published as |
PEX1(NM_000466.2):c.627G>A (p.(Met209Ile)), PEX1(NM_001282678.1):c.3G>A (p.M1?) |
ISCN |
- |
DB-ID |
PEX1_000172 See all 2 reported entries |
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) |
0.0002 View details |
Owner |
VKGL-NL_Rotterdam |

Variant on transcripts
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