Variant #0000296773 (NC_000007.13:g.127250907T>C, PAX4(NM_006193.2):c.*211A>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.127250907T>C
DNA change (hg38) g.127610853T>C
Published as PAX4(NM_001366111.1):c.1046A>G (p.*349Wext*2)
ISCN -
DB-ID PAX4_000001
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) 0.73408 View details
Owner VKGL-NL_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAX4 NM_006193.2 -/. - c.*211A>G r.(=) p.(=)