Variant #0000281564 (NC_000012.11:g.108956529dup, ISCU(NM_014301.3):c.-58+17dup)

Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.108956529dup
DNA change (hg38) g.108562753dup
Published as ISCU(NM_014301.4):c.-58+17dupG
ISCN -
DB-ID ISCU_000005
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 2018-01-15 20:58:59 +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     
ISCU NM_014301.3 -/. - c.-58+17dup r.(=) p.(=)
SART3 NM_014706.3 -/. - c.-1597dup r.(?) p.(=)