Variants - The Globin Gene Server - Leiden Open Variation Database

The Globin Gene Server

SMAD family member 6 (SMAD6)

LOVD v.2.0 Build 38 [ Current LOVD status ]
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Curators: Belinda Giardine and Joseph Borg

About this overview [Show]
This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.

Patient data (#0002044)
Disease	-
Reference	United Kingdom (Great Britain):Newcastle upon Tyne
Template	DNA
Technique	PCR
Remarks	-
# Reported	1
Ethnic origin	-
Disease Mesh ID	-
Geographic origin	-
Submitter	Huay L. Tan

Variant data
Allele	Unknown
Reported pathogenicity	Probably pathogenic
Concluded pathogenicity	Unknown
Exon	-
DNA change	NM_005585.4:c.1451G>T (View in UCSC Genome Browser, Ensembl)
RNA change	-
Protein	p.Cys484Phe
Re-site	-
Frequency	-
DB-ID	SMAD6_00002

1 entry in SMAD6

Path.

Allele

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID

+?/?

Unknown

-

NM_005585.4:c.1451G>T

-

p.Cys484Phe

-

-

SMAD6_00002