Variant #0000531806 (NC_000007.13:g.30058731dup, NM_017946.3:c.362dup (FKBP14))

Chromosome 7
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.30058731dup
DNA change (hg38) g.30019111dup
Published as FKBP14(NM_017946.3):c.362dupC (p.E122Rfs*7), FKBP14(NM_017946.4):c.362dup (p.(Glu122ArgfsTer7)), FKBP14(NM_017946.4):c.362dupC (p.E122Rfs*7)
ISCN -
DB-ID FKBP14_000001 See all 27 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_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2024-04-19 20:27:30 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
FKBP14 NM_017946.3 +/. - c.362dup r.(?) p.(Glu122ArgfsTer7) - -


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