Variant #0000331689 (NC_000007.13:g.92147143T>C, PEX1(NM_000466.2):c.686A>G)
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.92147143T>C |
DNA change (hg38) |
g.92517829T>C |
Published as |
PEX1(NM_000466.2):c.686A>G (p.(Asn229Ser)) |
ISCN |
- |
DB-ID |
PEX1_000170 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
VKGL-NL_Leiden |

Variant on transcripts
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