Variant #0000885177 (NC_000002.11:g.44059136G>A, NM_022436.2:c.352C>T (ABCG5))

Chromosome 2
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.44059136G>A
DNA change (hg38) -
Published as ABCG5(NM_022436.3):c.352C>T (p.R118W)
ISCN -
DB-ID ABCG5_000284
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_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2022-11-01 13:01:21 +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     
DYNC2LI1 NM_016008.3 ?/. - c.*22230G>A r.(=) p.(=)
ABCG5 NM_022436.2 ?/. - c.352C>T r.(?) p.(Arg118Trp)


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