Variant #0000889831 (NC_000011.9:g.45955606del, PHF21A(NM_001101802.1):c.1956del)

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.45955606del
DNA change (hg38) -
Published as PHF21A(NM_016621.3):c.1818del (p.(Ala607ProfsTer103)), PHF21A(NM_016621.4):c.1818delT (p.A607Pfs*103)
ISCN -
DB-ID GYLTL1B_000023 See all 2 reported entries
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_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PHF21A NM_001101802.1 +/. - c.1956del r.(?) p.(Ala653ProfsTer103)
GYLTL1B NM_152312.3 +/. - c.*5210del r.(?) p.(=)