Variant #0000328770 (NC_000021.8:g.47742583A>T, NM_006031.5:c.-1560A>T (PCNT))

Chromosome 21
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.47742583A>T
DNA change (hg38) g.46322669A>T
Published as C21orf58(NM_058180.3):c.70T>A (p.(Ser24Thr))
ISCN -
DB-ID C21orf58_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 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2025-02-07 18:57:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCNT NM_006031.5 -?/. - c.-1560A>T r.(?) p.(=)
C21orf58 NM_058180.3 -?/. - c.70T>A r.(?) p.(Ser24Thr)


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