Variant #0000001071 (NC_000007.14:g.66086814C>G, NM_000048.3:c.595C>G (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.66086814C>G
Published as -
Reference Ernie Zuraida Ali et al. (2019)dbSNPClinVar
DB-ID ASL_000006
dbSNP ID rs77632964
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 11:53:47 +08:00 (CST)
Date last edited 2021-08-23 11:06:35 +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 +/. 7 c.595C>G - r.(?) p.(Leu199Val) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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