(Q56240967)

English

DICER1 E1813Q

genetic variant

E1813Q
GLU1813GLN

In more languages

default for all languages

No label defined

No description defined

Statements

missense mutation

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/2052

human chromosome 14

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/2052

95557630

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/2052

95557630

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/2052

biological variant of

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/2052

positive diagnostic predictor for

Sertoli-Leydig cell tumor

determination method or standard

CIViC evidence level B

CIViC 4-star trust rating

statement disputed by

A survey of DICER1 hotspot mutations in ovarian and testicular sex cord-stromal tumors

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/5535

A survey of DICER1 hotspot mutations in ovarian and testicular sex cord-stromal tumors

Identifiers

CIViC variant ID

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/2052

dbSNP Reference SNP number

1 reference

HGVS nomenclature

ENST00000526495.1:c.5437G>C

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/2052

Sitelinks

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