Variant #0000002531 (NC_000010.11:g.43114671G>A, NM_020975.5:c.2071G>A (RET))

Individual ID 00000548
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43114671G>A
Published as -
Reference Nor Azian Abdul Murad et al.(2017)
DB-ID RET_000004
dbSNP ID rs1799939
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 2021-03-28 16:32:00 +08:00 (CST)
Date last edited 2021-08-01 13:34:26 +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     
RET NM_020975.5 +/. 11 c.2071G>A - r.(?) p.(Gly691Ser) - Likely-Benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000599 DNA PCR;SEQ RET 4 Nur Aisyah Athirah