Variant #0000533041 (NC_000007.13:g.92147017T>C, PEX1(NM_000466.2):c.812A>G)
Chromosome |
7 |
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.92147017T>C |
DNA change (hg38) |
g.92517703T>C |
Published as |
PEX1(NM_000466.2):c.812A>G (p.(Asn271Ser)), PEX1(NM_001282678.1):c.188A>G (p.N63S) |
ISCN |
- |
DB-ID |
PEX1_000169 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) |
0.00206 View details |
Owner |
VKGL-NL_Leiden |

Variant on transcripts
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