Variant #0000728924 (NC_000023.10:g.46918243T>C, PHF16(NM_014735.3):c.2236T>C)

Chromosome X
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.46918243T>C
DNA change (hg38) -
Published as JADE3(NM_001077445.2):c.2236T>C (p.(Phe746Leu))
ISCN -
DB-ID PHF16_000026 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) 0.0042 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     
PHF16 NM_014735.3 -?/. - c.2236T>C r.(?) p.(Phe746Leu)