Variant #0000002568 (NC_000004.12:g.76174224G>A, NM_005506.3:c.914C>T (SCARB2))

Individual ID 00000574
Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.76174224G>A
Published as -
Reference Yock-Ping Chow et al.(2017)
DB-ID SCARB2_000001 See all 2 reported entries
dbSNP ID rs148588727
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-04-07 11:39:30 +08:00 (CST)
Date last edited 2021-08-01 14:07:36 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
SCARB2 NM_005506.3 +/. - c.914C>T - r.(?) p.(Thr305Met) Uncertain significance



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000630 DNA PCR;PFGE;SEQ SCARB2 1 Nur Aisyah Athirah