Variant #0000401228 (NC_000023.10:g.46918243T>C, PHF16(NM_014735.3):c.2236T>C)

Individual ID 00173504
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.46918243T>C
DNA change (hg38) g.47058841T>C
Published as F746L
ISCN -
DB-ID PHF16_000026 See all 2 reported entries
Variant remarks recurrent, found 4 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 4/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0042 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHF16 NM_014735.3 ?/. 11 c.2236T>C r.(?) p.(Phe746Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174387 DNA SEQ - - ASMTL 1 Lucy Raymond