Variant #0000331843 (NC_000007.13:g.127254981G>A, PAX4(NM_006193.2):c.289C>T)

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.127254981G>A
DNA change (hg38) g.127614927G>A
Published as PAX4(NM_006193.2):c.289C>T (p.(Arg97Cys))
ISCN -
DB-ID PAX4_000019
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) 0.00064 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAX4 NM_006193.2 -?/. - c.289C>T r.(?) p.(Arg97Cys)