Variant #0000910828 (NC_000001.10:g.161192802C>T, NM_004106.1:c.*4069C>T (FCER1G))

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.161192802C>T
DNA change (hg38) -
Published as APOA2(NM_001643.2):c.91G>A (p.E31K)
ISCN -
DB-ID APOA2_000017
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) Retrieve
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2023-01-11 15:44:22 +01:00 (CET)
Date last edited 2024-08-28 13:07:21 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NR1I3 NM_001077469.2 ?/. - c.*6670G>A r.(=) p.(=)
APOA2 NM_001643.1 ?/. - c.91G>A r.(?) p.(Glu31Lys)
FCER1G NM_004106.1 ?/. - c.*4069C>T r.(=) p.(=)
NR1I3 NM_005122.4 ?/. - c.*6785G>A r.(=) p.(=)
TOMM40L NM_032174.4 ?/. - c.-3260C>T r.(?) p.(=)


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