Variant #0000002750 (NC_000014.9:g.141976C>T, TSHR(NM_000369.5):c.468-31C>T)

Individual ID 00000624
Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.141976C>T
Published as -
Reference Maslinda Musa et al.(2007): https://www.researchgate.net/publication/267377847_Molecular_Analysis_of_the_Thyroid_Stimulating_Hormone_Receptor_Gene_in_Unrelated_Patients_with_Congenital_Hypothyroidism
DB-ID TSHR_000001 See all 8 reported entries
dbSNP ID -
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 +/. 5i c.468-31C>T IVS5-31C>T r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000691 DNA PCR;SEQ;SSCA TSHR 3 Nur Aisyah Athirah