Variant #0000525415 (NC_000005.9:g.179252184A>G, NM_003900.4:c.712A>G (SQSTM1))

Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.179252184A>G
DNA change (hg38) g.179825184A>G
Published as SQSTM1(NM_001142298.1):c.460A>G (p.(Lys154Glu)), SQSTM1(NM_003900.5):c.712A>G (p.K238E)
ISCN -
DB-ID SQSTM1_000017 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00279 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2024-08-28 13:16:32 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SQSTM1 NM_003900.4 -/. - c.712A>G r.(?) p.(Lys238Glu)
MGAT4B NM_014275.4 -/. - c.-18601T>C r.(?) p.(=)
C5orf45 NM_016175.3 -/. - c.*12207T>C r.(=) p.(=)


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