Variant #0000334780 (NC_000023.10:g.79698615A>G, FAM46D(NM_001170574.1):c.577A>G)

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.79698615A>G
DNA change (hg38) g.80443116A>G
Published as FAM46D(NM_001170574.1):c.577A>G (p.(Lys193Glu))
ISCN -
DB-ID FAM46D_000002
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) 0.0006 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     
FAM46D NM_001170574.1 -?/. - c.577A>G r.(?) p.(Lys193Glu)