Variant #0000530610 (NC_000007.13:g.127255483C>T, PAX4(NM_006193.2):c.92G>A)

Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.127255483C>T
DNA change (hg38) g.127615429C>T
Published as PAX4(NM_006193.2):c.92G>A (p.(Arg31Gln))
ISCN -
DB-ID PAX4_000025 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) 0.00385 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.92G>A r.(?) p.(Arg31Gln)