Variant #0000533052 (NC_000007.13:g.92151542C>T, PEX1(NM_000466.2):c.147G>A)

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.92151542C>T
DNA change (hg38) g.92522228C>T
Published as PEX1(NM_000466.2):c.147G>A (p.V49=)
ISCN -
DB-ID PEX1_000179
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) 4.0E-5 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 -?/. - c.147G>A r.(?) p.(Val49=)