Variant #0000611310 (NC_000007.13:g.92147515A>G, PEX1(NM_000466.2):c.412T>C)

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.92147515A>G
DNA change (hg38) g.92518201A>G
Published as PEX1(NM_000466.2):c.412T>C (p.F138L)
ISCN -
DB-ID PEX1_000191
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 ?/. - c.412T>C r.(?) p.(Phe138Leu)