Variant #0000872572 (NC_000017.10:g.26879407T>A, NM_005148.3:c.169A>T (UNC119))

Individual ID 00413581
Chromosome 17
Allele Unknown
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.26879407T>A
DNA change (hg38) g.28552389T>A
Published as HRG4 A-to-T transition in codon 57, changing a lysine to a premature termination codon
ISCN -
DB-ID PIGS_000006 See all 2 reported entries
Variant remarks heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases
Reference PubMed: Kobayashi 2000
ClinVar ID -
dbSNP ID rs267607166
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-19 14:18:03 +02:00 (CEST)
Date last edited 2022-07-19 14:18:16 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UNC119 NM_005148.3 ?/. 5 c.169A>T r.(?) p.(Lys57*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000414860 DNA DGGE;SEQ blood - UNC119 1 LOVD


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