Variant #0000331691 (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 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0002 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 ?/. - c.627G>A r.(?) p.(Met209Ile)