Variant #0000973437 (NC_000001.10:g.16263649C>T, NC_000001.10(NM_015001.2):c.10027-9C>T (SPEN))

Chromosome 1
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.16263649C>T
DNA change (hg38) -
Published as SPEN(NM_015001.3):c.10027-9C>T
ISCN -
DB-ID SPEN_000040
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) 0.00011 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-04-19 20:20:39 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZBTB17 NM_003443.2 -?/. - c.*4815G>A r.(=) p.(=)
SPEN NM_015001.2 -?/. - c.10027-9C>T r.(=) p.(=)


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