Variant #0000090691 (NC_000002.11:g.62066572G>A, NM_001201543.1:c.1567C>T (FAM161A))

Individual ID 00059756
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.62066572G>A
DNA change (hg38) g.61839437G>A
Published as Arg523X
ISCN -
DB-ID FAM161A_000016 See all 20 reported entries
Variant remarks -
Reference PubMed: Sharon 2015,PubMed: Bandah-Rozenfeld 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner Jacopo Celli
Database submission license No license selected
Created by Jacopo Celli
Date created 2010-12-01 16:21:22 +01:00 (CET)
Date last edited 2021-04-30 14:24:37 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FAM161A NM_001201543.1 +/. 3 c.1567C>T r.(?) p.(Arg523*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000059743 DNA SEQ - - FAM161A 1 Jacopo Celli


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