Variant #0000528880 (NC_000006.11:g.42942671G>A, PEX6(NM_000287.3):c.988C>T)

Chromosome 6
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.42942671G>A
DNA change (hg38) g.42974933G>A
Published as PEX6(NM_000287.3):c.988C>T (p.H330Y)
ISCN -
DB-ID GNMT_000003
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
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PEX6 NM_000287.3 -?/. - c.988C>T r.(?) p.(His330Tyr)
GNMT NM_018960.4 -?/. - c.*11227G>A r.(=) p.(=)