Full database search - The Globin Gene Server - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the SMAD6 database, matching your query. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than SMAD6, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the SMAD6 full legend here.

1 public entry
entries per page

Path.

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID

Disease

Reference

Template

Technique

Remarks

# Reported

Ethnic origin

Disease Mesh ID

Geographic origin


-?/?	4	NM_005585.4:c.973G>A	-	p. Ala325Thr	-	-	SMAD6_00004	Congenital Cardiovascular Malformation	United Kingdom (Great Britain):Newcastle upon Tyne	DNA	PCR	-	1	Caucasian	-	-

Click here to save this list in a tab-delimited text file.

Legend: [ SMAD6 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. SMAD6 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Ethnic origin: Ethnic origin of patient Disease Mesh ID: Mesh ID Geographic origin: Geographic origin of patient

The Globin Gene Server

SMAD family member 6 (SMAD6)