Variant #0000653596 (NC_000001.10:g.114445351C>G, NM_006594.3:c.247G>C (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.114445351C>G
DNA change (hg38) g.113902729C>G
Published as AP4B1(NM_001253852.3):c.247G>C (p.(Ala83Pro)), AP4B1(NM_006594.4):c.247G>C (p.A83P)
ISCN -
DB-ID AP4B1_000050 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) 2.0E-5 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 2020-03-23 16:13:27 +01:00 (CET)
Date last edited 2024-04-19 20:20:39 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BCL2L15 NM_001010922.2 ?/. - c.-15354G>C r.(?) p.(=)
AP4B1 NM_006594.3 ?/. - c.247G>C r.(?) p.(Ala83Pro)
PTPN22 NM_015967.5 ?/. - c.-31106G>C r.(?) p.(=)
DCLRE1B NM_022836.3 ?/. - c.-2858C>G r.(?) p.(=)


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