Variant #0000400973 (NC_000023.10:g.79698593C>G, FAM46D(NM_001170574.1):c.555C>G)

Individual ID 00173480
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.79698593C>G
DNA change (hg38) g.80443094C>G
Published as D185E
ISCN -
DB-ID FAM46D_000005
Variant remarks recurrent, found 138 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 138/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.56068 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     
FAM46D NM_001170574.1 ?/. - c.555C>G r.(?) p.(Asp185Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174363 DNA SEQ - - PHF16 1 Lucy Raymond