Variant #0000716697 (NC_000001.10:g.114399229G>A, NM_006594.3:c.*38458C>T (AP4B1))

Chromosome 1
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.114399229G>A
DNA change (hg38) -
Published as PTPN22(NM_015967.6):c.421C>T (p.R141C)
ISCN -
DB-ID AP4B1_000056
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) 0.00018 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2021-02-08 18:36:18 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BCL2L15 NM_001010922.2 ?/. - c.*24516C>T r.(=) p.(=)
AP4B1 NM_006594.3 ?/. - c.*38458C>T r.(=) p.(=)
PTPN22 NM_015967.5 ?/. - c.421C>T r.(?) p.(Arg141Cys)


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