LOVD - Variant listings for B4GALT7

About this overview [Show]

5 public entries
entries per page

Path. Hide Path. column Descending
Ascending

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

dbSNP Hide dbSNP column Descending
Ascending

Type Hide Type column Descending
Ascending

Mutation Effect Hide Mutation Effect column Descending
Ascending

Protein Hide Protein column Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Re-site Hide Re-site column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

Patient ID Hide Patient ID column Descending
Ascending

Disease Hide Disease column Descending
Ascending

Reference Hide Reference column Descending
Ascending

Template Hide Template column Descending
Ascending

Technique Hide Technique column Descending
Ascending

Remarks Hide Remarks column Descending
Ascending

Ethnic origin Hide Ethnic origin column Descending
Ascending
+/+ 02 c.122T>C
    + c.808C>T
- Substitution Missense p.(Leu41Pro) - - - B4GALT7_00004 Progeroid EDS Guo et al., 2013 DNA PCR, SEQ - -
+/+ 03 c.557C>A
    + c.617T>C
- Substitution Missense p.(Ala186Asp) - - - B4GALT7_00001 Progeroid EDS Okajima et al., 1999 Almeida et al., 1999 DNA PCR, SEQ This patient was previously described by Kresse et al., 1987 and Quentin et al., 1990; and subsequently described by Furukawa and Okajima, 2002 and Gotte et al., 2005. Danish
+/+ 03 c.617T>C
    + c.557C>A
- Substitution Missense p.(Leu206Pro) - - - B4GALT7_00002 Progeroid EDS Okajima et al., 1999 Almeida et al., 1999 DNA PCR, SEQ This patient was previously described by Kresse et al., 1987 and Quentin et al., 1990; and subsequently described by Furukawa and Okajima, 2002 and Gotte et al., 2005. Danish
+/+ 05 c.808C>T
    + c.808C>T
dbSNP Substitution Missense p.(Arg270Cys) - - - B4GALT7_00003 Patient 1 Progeroid EDS Faiyaz-Ul-Haque et al., 2004 DNA PCR, SEQ The parents of this patient are first cousins. This patient's paternal uncle is also affected by Progeroid EDS and harbours the same two variants. This patient was subsequently described by Walker et al., 2004 and by Seidler et al., 2006. Qatari
+/+ 05 c.808C>T
    + c.122T>C
dbSNP Substitution Missense p.(Arg270Cys) - - - B4GALT7_00003 Progeroid EDS Guo et al., 2013 DNA PCR, SEQ - -
1 - 5

Legend: [ B4GALT7 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. Genomic Reference Sequence.
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. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation Effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. B4GALT7 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Patient ID: Internal reference to the patient. 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. Ethnic origin: Ethnic origin of patient