NOTE: for testing purposes only, database under construction !.
LOVD - Variant listings for ABCB7

About this overview [Show]

Patient data (#0000011)
Disease ASAT
Phenotype additional -
Remarks 3-generation family, 4 affected males 9 carrier females
Reference Pagan 1985
Geographic origin US
Ethnic origin European American
Inheritance familial
Consang. -
Age_exam -
Age_onset -
MR -
# Reported 4

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
Exon 09
DNA change c.1203T>G   (View in UCSC Genome Browser, Ensembl)
Var_pub_as 1200T>G, I400M
RNA change r.(?)
Protein p.Ile401Met
DB-ID ABCB7_00001
Variant remarks -
Frequency -
Reference (OMIM 0001), Allikmets 1999
Template DNA
do not use SSCA;SEQ
Re-site -
Genetic origin -

1 entry in ABCB7

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Frequency Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
do not use Descending
Ascending
Re-site Descending
Ascending
Genetic origin Descending
Ascending
+/? Maternal (confirmed) 09 c.1203T>G 1200T>G, I400M r.(?) p.Ile401Met ABCB7_00001 - - (OMIM 0001), Allikmets 1999 DNA SSCA;SEQ - -

NOTE: for testing purposes only, database under construction !.