TG c.6047del ;(p.Q2016Rfs*2)

Variant ID: 8-133984110-CA-C

NM_003235.4(TG):c.6047del;(p.Q2016Rfs*2)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement.

Internal Medicine (Tokyo, Japan)
Mizokami, Tetsuya T; Fukata, Shuji S; Kogai, Takahiko T; Hishinuma, Akira A; Hamada, Katsuhiko K; Maruta, Tetsushi T; Higashi, Kiichiro K; Tajiri, Junichi J
Publication Date: 2019-09-15

Variant appearance in text: TG: 6047delA
PubMed Link: 31178475
Variant Present in the following documents:
  • Main text
  • 1349-7235-58-2669.pdf
View BVdb publication page