Genomic variant #0000250962

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.113993073A>G
DNA change (hg38) -
Published as PAX8:c.985T>C (F329L)
ISCN -
DB-ID PAX8_000004 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01911 View details
Owner VKGL-NL_Utrecht




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PAX8 NM_003466.3 -/. - c.985T>C benign r.(?) p.(Phe329Leu)