Variant #0000001075 (NC_000007.14:g.66088866C>T, NM_000048.3:c.778C>T (ASL))

Individual ID 00000213
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.66088866C>T
Published as -
Reference Ernie Zuraida Ali et al. (2019)ClinVar
DB-ID ASL_000008
dbSNP ID -
Frequency 1/5
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-02 12:31:49 +08:00 (CST)
Date last edited 2021-08-23 11:18:26 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
ASL NM_000048.3 +/. 10 c.778C>T - r.(?) p.(Leu260Phe) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000228 DNA PCR;SEQ ASL 4 Nuur Athirah Binti Mohd Daud