Variant #0000691539 (NC_000013.10:g.37576687C>T, NM_181503.2:c.117C>T (EXOSC8))

Chromosome 13
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.37576687C>T
DNA change (hg38) -
Published as EXOSC8(NM_181503.2):c.117C>T (p.(=))
ISCN -
DB-ID ALG5_000002
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2020-09-15 15:50:26 +02:00 (CEST)
Date last edited 2023-04-16 21:50:28 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ALG5 NM_013338.4 -?/. - c.-3250G>A r.(?) p.(=)
SUPT20H NM_017569.3 -?/. - c.*7159G>A r.(=) p.(=)
EXOSC8 NM_181503.2 -?/. - c.117C>T r.(?) p.(Ile39=)


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