Variant #0000000956 (NC_000003.12:g.15644824A>G, BTD(NM_000060.4):c.968A>G)

Individual ID 00000194
Chromosome 3
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.15644824A>G
Published as -
Reference M Mardhiah et al. (2019), dbSNP, ClinVar
DB-ID BTD_000004
dbSNP ID rs397507176
Frequency 1/6
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
BTD NM_000060.4 ./. 4 c.968A>G - r.(?) p.(His323Arg) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000209 DNA PCR;SEQ BTD 5 Nuur Athirah Binti Mohd Daud