Variant #0000002722 (NC_000014.9:g.193715G>C, TSHR(NM_000369.5):c.2181G>C)

Individual ID 00000615
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.193715G>C
Published as -
Reference Maslinda Musa et al.(2008): https://www.researchgate.net/publication/266449624
DB-ID TSHR_000004 See all 5 reported entries
dbSNP ID rs1991517
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
TSHR NM_000369.5 +/. 10 c.2181G>C D727E r.(?) p.(Glu727Asp) Benign/Likely benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000681 DNA PCR;SEQ TSHR 1 Nur Aisyah Athirah