Variant #0000653593 (NC_000001.10:g.114394645A>C, NM_006594.3:c.*43042T>G (AP4B1))

Chromosome 1
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.114394645A>C
DNA change (hg38) g.113852023A>C
Published as PTPN22(NM_015967.6):c.828+4T>G, PTPN22(NM_015967.8):c.828+4T>G
ISCN -
DB-ID AP4B1_000047 See all 2 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) 0.0003 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2020-03-23 16:13:27 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BCL2L15 NM_001010922.2 -?/. - c.*29100T>G r.(=) p.(=)
AP4B1 NM_006594.3 -?/. - c.*43042T>G r.(=) p.(=)
PTPN22 NM_015967.5 -?/. - c.828+4T>G r.spl? p.?


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