Variant #0000533040 (NC_000007.13:g.92147017T>C, PEX1(NM_000466.2):c.812A>G)

Chromosome 7
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification 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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX1 NM_000466.2 -/. - c.812A>G r.(?) p.(Asn271Ser)