Variant #0000001067 (NC_000007.14:g.66083164C>T, NM_000048.3:c.436C>T (ASL))

Individual ID 00000212
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.66083164C>T
Published as -
Reference Ernie Zuraida Ali et al. (2019), ClinVar
DB-ID ASL_000002
dbSNP ID -
Frequency 1/8
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 11:32:27 +08:00 (CST)
Date last edited 2020-12-14 17:15:26 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
ASL NM_000048.3 +/. 5 c.436C>T - r.(?) p.(Arg146Trp) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000227 DNA PCR;SEQ ASL 6 Nuur Athirah Binti Mohd Daud