Variant #0000401478 (NC_000016.9:g.2546553C>T, NM_001199107.1:c.404C>T (TBC1D24))

Chromosome 16
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.2546553C>T
DNA change (hg38) g.2496552C>T
Published as -
ISCN -
DB-ID TBC1D24_000076 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Jing Zhang
Database submission license No license selected
Created by Jing Zhang
Date created 2018-08-20 04:57:47 +02:00 (CEST)
Date last edited 2018-08-22 18:30:50 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBC1D24 NM_001199107.1 +?/. - c.404C>T r.(?) p.(Pro135Leu)
TBC1D24 NM_020705.2 +?/. - c.404C>T r.(?) p.(Pro135Leu)



Screenings

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